Data files for ABC-INT-Mutation_impact integrator unit

This commit is contained in:
hyginn 2017-10-17 07:32:01 -04:00
parent a942bef91e
commit d28536b395
7 changed files with 400 additions and 0 deletions

Binary file not shown.

11
data/KRAS_HSa_coding.fa Normal file
View File

@ -0,0 +1,11 @@
>KRAS-201 cds:protein_coding
ATGACTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACG
ATACAGCTAATTCAGAATCATTTTGTGGACGAATATGATCCAACAATAGAGGATTCCTAC
AGGAAGCAAGTAGTAATTGATGGAGAAACCTGTCTCTTGGATATTCTCGACACAGCAGGT
CAAGAGGAGTACAGTGCAATGAGGGACCAGTACATGAGGACTGGGGAGGGCTTTCTTTGT
GTATTTGCCATAAATAATACTAAATCATTTGAAGATATTCACCATTATAGAGAACAAATT
AAAAGAGTTAAGGACTCTGAAGATGTACCTATGGTCCTAGTAGGAAATAAATGTGATTTG
CCTTCTAGAACAGTAGACACAAAACAGGCTCAGGACTTAGCAAGAAGTTATGGAATTCCT
TTTATTGAAACATCAGCAAAGACAAGACAGAGAGTGGAGGATGCTTTTTATACATTGGTG
AGAGAGATCCGACAATACAGATTGAAAAAAATCAGCAAAGAAGAAAAGACTCCTGGCTGT
GTGAAAATTAAAAAATGCATTATAATGTAA

17
data/OR1A1_HSa_coding.fa Normal file
View File

@ -0,0 +1,17 @@
>OR1A1-201 cds:protein_coding
ATGAGGGAAAATAACCAGTCCTCTACACTGGAATTCATCCTCCTGGGAGTTACTGGTCAG
CAGGAACAGGAAGATTTCTTCTACATCCTCTTCTTGTTCATTTACCCCATCACATTGATT
GGAAACCTGCTCATCGTCCTAGCCATTTGCTCTGATGTTCGCCTTCACAACCCCATGTAT
TTTCTCCTTGCCAACCTCTCCTTGGTTGACATCTTCTTCTCATCGGTAACCATCCCTAAG
ATGCTGGCCAACCATCTCTTGGGCAGCAAATCCATCTCTTTTGGGGGATGCCTAACGCAG
ATGTATTTCATGATAGCCTTGGGTAACACAGACAGCTATATTTTGGCTGCAATGGCATAT
GATCGAGCTGTGGCCATCAGCCGCCCACTTCACTACACAACAATTATGAGTCCACGGTCT
TGTATCTGGCTTATTGCTGGGTCTTGGGTGATTGGAAATGCCAATGCCCTCCCCCACACT
CTGCTCACAGCTAGTCTGTCCTTCTGTGGCAACCAGGAAGTGGCCAACTTCTACTGTGAC
ATTACCCCCTTGCTGAAGTTATCCTGTTCTGACATCCACTTTCATGTGAAGATGATGTAC
CTAGGGGTTGGCATTTTCTCTGTGCCATTACTATGCATCATTGTCTCCTATATTCGAGTC
TTCTCCACAGTCTTCCAGGTTCCTTCCACCAAGGGCGTGCTCAAGGCCTTCTCCACCTGT
GGTTCCCACCTCACGGTTGTCTCTTTGTATTATGGTACAGTCATGGGCACGTATTTCCGC
CCTTTGACCAATTATAGCCTAAAAGACGCAGTGATCACTGTAATGTACACGGCAGTGACC
CCAATGTTAAATCCTTTCATCTACAGTCTGAGAAATCGGGACATGAAGGCTGCCCTGCGG
AAACTCTTCAACAAGAGAATCTCCTCGTAA

31
data/PTPN11_HSa_coding.fa Normal file
View File

@ -0,0 +1,31 @@
>PTPN11-201 cds:protein_coding
ATGACATCGCGGAGATGGTTTCACCCAAATATCACTGGTGTGGAGGCAGAAAACCTACTG
TTGACAAGAGGAGTTGATGGCAGTTTTTTGGCAAGGCCTAGTAAAAGTAACCCTGGAGAC
TTCACACTTTCCGTTAGAAGAAATGGAGCTGTCACCCACATCAAGATTCAGAACACTGGT
GATTACTATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTAT
TACATGGAACATCACGGGCAATTAAAAGAGAAGAATGGAGATGTCATTGAGCTTAAATAT
CCTCTGAACTGTGCAGATCCTACCTCTGAAAGGTGGTTTCATGGACATCTCTCTGGGAAA
GAAGCAGAGAAATTATTAACTGAAAAAGGAAAACATGGTAGTTTTCTTGTACGAGAGAGC
CAGAGCCACCCTGGAGATTTTGTTCTTTCTGTGCGCACTGGTGATGACAAAGGGGAGAGC
AATGACGGCAAGTCTAAAGTGACCCATGTTATGATTCGCTGTCAGGAACTGAAATACGAC
GTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAAT
CCTATGGTGGAAACATTGGGTACAGTACTACAACTCAAGCAGCCCCTTAACACGACTCGT
ATAAATGCTGCTGAAATAGAAAGCAGAGTTCGAGAACTAAGCAAATTAGCTGAGACCACA
GATAAAGTCAAACAAGGCTTTTGGGAAGAATTTGAGACACTACAACAACAGGAGTGCAAA
CTTCTCTACAGCCGAAAAGAGGGTCAAAGGCAAGAAAACAAAAACAAAAATAGATATAAA
AACATCCTGCCCTTTGATCATACCAGGGTTGTCCTACACGATGGTGATCCCAATGAGCCT
GTTTCAGATTACATCAATGCAAATATCATCATGCCTGAATTTGAAACCAAGTGCAACAAT
TCAAAGCCCAAAAAGAGTTACATTGCCACACAAGGCTGCCTGCAAAACACGGTGAATGAC
TTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGATTGTCATGACAACGAAAGAAGTG
GAGAGAGGAAAGAGTAAATGTGTCAAATACTGGCCTGATGAGTATGCTCTAAAAGAATAT
GGCGTCATGCGTGTTAGGAACGTCAAAGAAAGCGCCGCTCATGACTATACGCTAAGAGAA
CTTAAACTTTCAAAGGTTGGACAAGGGAATACGGAGAGAACGGTCTGGCAATACCACTTT
CGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAG
GAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGT
GCTGGAATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTATTGACATCATCAGA
GAGAAAGGTGTTGACTGCGATATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAG
AGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATATGGCGGTCCAGCAT
TATATTGAAACACTACAGCGCAGGATTGAAGAAGAGCAGAAAAGCAAGAGGAAAGGGCAC
GAATATACAAATATTAAGTATTCTCTAGCGGACCAGACGAGTGGAGATCAGAGCCCTCTC
CCGCCTTGTACTCCAACGCCACCCTGTGCAGAAATGAGAGAAGACAGTGCTAGAGTCTAT
GAAAACGTGGGCCTGATGCAACAGCAGAAAAGTTTCAGATGA

View File

@ -0,0 +1,179 @@
MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000311936
93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000557334
93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000256078
93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000556131
86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000311936
86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000557334
86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000556131
86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000256078
72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000556131
72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000256078
72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000557334
72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000311936
63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000557334
63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000556131
63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000256078
63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000311936
36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000311936
36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000256078
36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000556131
36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000557334
24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000256078
24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000311936
24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000557334
24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000556131
23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000556131
23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000311936
23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000557334
23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000256078
16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000556131
16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000311936
16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000557334
16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000256078
13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000311936
13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000556131
13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000557334
13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000256078
11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000311936
11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000256078
10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000557334
10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000311936
10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000556131
10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000256078
9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000557334
9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000556131
9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000311936
9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000256078
7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000256078
7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000256078
7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000311936
7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000311936
5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000311936
5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000256078
5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000311936
5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000557334
5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000556131
5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000256078
4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000256078
4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000557334
4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000311936
4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000556131
3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000256078
3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000256078
3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000256078
3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000311936
3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000311936
3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000256078
3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000256078
3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000256078
3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000311936
3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000311936
3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000311936
3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000311936
3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000556131
3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000557334
3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000557334
3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000556131
2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000556131
2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000311936
2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000311936
2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000557334
2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000556131
2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000311936
2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000256078
2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000256078
2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000256078
2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000311936
2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000311936
2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000256078
2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000557334
2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000256078
1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000557334
1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000557334
1 - missense_variant 25362743 1 A 1 T S/C 12 1 72 ENSG00000133703 ENST00000557334
1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000557334
1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000557334
1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000557334
0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000557334
1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000557334
0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000557334
0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000311936
1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000256078
1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000256078
1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000256078
1 + missense_variant 25362743 1 A 1 G C/R 12 1 185 ENSG00000133703 ENST00000311936
0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 183-184 ENSG00000133703 ENST00000311936
1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000311936
1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000311936
1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000311936
1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000311936
1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000311936
1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000311936
1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000256078
1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000256078
1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000256078
1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000256078
1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000256078
1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000256078
1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000256078
1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000256078
0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000256078
0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000256078
1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000256078
0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000256078
1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000256078
1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000256078
0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000256078
1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000256078
0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000256078
1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000256078
1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000311936
0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000311936
1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000256078
1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000311936
1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000556131
0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000556131
1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000556131
0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000556131
1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000556131
1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000556131
1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000556131
1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000556131
1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000556131
1 + missense_variant 25362743 1 A 1 G C/R 12 1 72 ENSG00000133703 ENST00000557334
0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 70-71 ENSG00000133703 ENST00000557334
1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000557334
1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000557334
0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000557334
1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000557334
0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000556131
1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000556131
1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000556131
1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000311936
1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000311936
1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000311936
1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000311936
0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000311936
1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000311936
0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000311936
0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000311936
1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000311936
1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000311936
1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000311936
1 - missense_variant 25362743 1 A 1 T S/C 12 1 185 ENSG00000133703 ENST00000311936
1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000311936
1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000311936
1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000256078
1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000256078
1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000256078
1 + missense_variant 25368454 1 C 1 T R/Q 12 1 164 ENSG00000133703 ENST00000256078
1 + missense_variant 25368473 1 T 1 C T/A 12 1 158 ENSG00000133703 ENST00000256078
1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000256078
1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000256078
1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000256078
1 MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
2 93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000311936
3 93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000557334
4 93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000256078
5 93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000556131
6 86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000311936
7 86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000557334
8 86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000556131
9 86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000256078
10 72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000556131
11 72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000256078
12 72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000557334
13 72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000311936
14 63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000557334
15 63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000556131
16 63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000256078
17 63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000311936
18 36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000311936
19 36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000256078
20 36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000556131
21 36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000557334
22 24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000256078
23 24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000311936
24 24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000557334
25 24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000556131
26 23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000556131
27 23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000311936
28 23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000557334
29 23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000256078
30 16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000556131
31 16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000311936
32 16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000557334
33 16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000256078
34 13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000311936
35 13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000556131
36 13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000557334
37 13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000256078
38 11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000311936
39 11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000256078
40 10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000557334
41 10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000311936
42 10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000556131
43 10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000256078
44 9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000557334
45 9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000556131
46 9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000311936
47 9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000256078
48 7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000256078
49 7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000256078
50 7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000311936
51 7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000311936
52 5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000311936
53 5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000256078
54 5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000311936
55 5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000557334
56 5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000556131
57 5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000256078
58 4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000256078
59 4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000557334
60 4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000311936
61 4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000556131
62 3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000256078
63 3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000256078
64 3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000256078
65 3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000311936
66 3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000311936
67 3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000256078
68 3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000256078
69 3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000256078
70 3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000311936
71 3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000311936
72 3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000311936
73 3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000311936
74 3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000556131
75 3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000557334
76 3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000557334
77 3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000556131
78 2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000556131
79 2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000311936
80 2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000311936
81 2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000557334
82 2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000556131
83 2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000311936
84 2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000256078
85 2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000256078
86 2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000256078
87 2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000311936
88 2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000311936
89 2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000256078
90 2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000557334
91 2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000256078
92 1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000557334
93 1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000557334
94 1 - missense_variant 25362743 1 A 1 T S/C 12 1 72 ENSG00000133703 ENST00000557334
95 1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000557334
96 1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000557334
97 1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000557334
98 0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000557334
99 1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000557334
100 0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000557334
101 0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000311936
102 1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000256078
103 1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000256078
104 1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000256078
105 1 + missense_variant 25362743 1 A 1 G C/R 12 1 185 ENSG00000133703 ENST00000311936
106 0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 183-184 ENSG00000133703 ENST00000311936
107 1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000311936
108 1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000311936
109 1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000311936
110 1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000311936
111 1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000311936
112 1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000311936
113 1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000311936
114 1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000311936
115 1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000311936
116 1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000311936
117 1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000256078
118 1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000256078
119 1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000256078
120 1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000256078
121 1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000256078
122 1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000256078
123 1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000256078
124 1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000256078
125 0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000256078
126 0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000256078
127 1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000256078
128 0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000256078
129 1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000256078
130 1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000256078
131 0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000256078
132 1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000256078
133 0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000256078
134 1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000256078
135 1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000311936
136 0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000311936
137 1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000256078
138 1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000311936
139 1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000556131
140 0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000556131
141 1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000556131
142 0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000556131
143 1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000556131
144 1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000556131
145 1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000556131
146 1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000556131
147 1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000556131
148 1 + missense_variant 25362743 1 A 1 G C/R 12 1 72 ENSG00000133703 ENST00000557334
149 0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 70-71 ENSG00000133703 ENST00000557334
150 1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000557334
151 1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000557334
152 0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000557334
153 1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000557334
154 0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000556131
155 1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000556131
156 1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000556131
157 1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000311936
158 1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000311936
159 1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000311936
160 1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000311936
161 0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000311936
162 1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000311936
163 0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000311936
164 0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000311936
165 1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000311936
166 1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000311936
167 1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000311936
168 1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000311936
169 1 - missense_variant 25362743 1 A 1 T S/C 12 1 185 ENSG00000133703 ENST00000311936
170 1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000311936
171 1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000311936
172 1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000256078
173 1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000256078
174 1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000256078
175 1 + missense_variant 25368454 1 C 1 T R/Q 12 1 164 ENSG00000133703 ENST00000256078
176 1 + missense_variant 25368473 1 T 1 C T/A 12 1 158 ENSG00000133703 ENST00000256078
177 1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000256078
178 1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000256078
179 1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000256078

View File

@ -0,0 +1,49 @@
MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
2 + missense_variant 3119330 2 G 2 A R/Q 17 2 139 ENSG00000172146 ENST00000304094
2 + missense_variant 3119138 2 C 2 T S/L 17 2 75 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119772 0 C 2 T - 17 2 286 ENSG00000172146 ENST00000304094
1 + missense_variant 3119791 1 C 1 T R/W 17 1 293 ENSG00000172146 ENST00000304094
1 + missense_variant 3119799 1 G 1 A M/I 17 1 295 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119805 0 T 1 C - 17 1 297 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119823 0 C 1 T - 17 1 303 ENSG00000172146 ENST00000304094
1 + missense_variant 3119786 1 G 1 A R/K 17 1 291 ENSG00000172146 ENST00000304094
1 + missense_variant 3119744 1 C 1 G T/R 17 1 277 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119691 0 C 1 T - 17 1 259 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119589 0 C 1 T - 17 1 225 ENSG00000172146 ENST00000304094
1 + missense_variant 3119408 1 G 1 A S/N 17 1 165 ENSG00000172146 ENST00000304094
1 + missense_variant 3119431 1 G 1 A E/K 17 1 173 ENSG00000172146 ENST00000304094
1 + missense_variant 3119462 1 C 1 T P/L 17 1 183 ENSG00000172146 ENST00000304094
1 + stop_gained 3119514 1 C 1 G - 17 1 200 ENSG00000172146 ENST00000304094
1 + missense_variant 3119530 1 T 1 G F/V 17 1 206 ENSG00000172146 ENST00000304094
1 + missense_variant 3119581 1 A 1 G T/A 17 1 223 ENSG00000172146 ENST00000304094
1 + stop_gained 3119590 1 C 1 T - 17 1 226 ENSG00000172146 ENST00000304094
1 + missense_variant 3119679 1 G 1 T M/I 17 1 255 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119592 0 G 1 A - 17 1 226 ENSG00000172146 ENST00000304094
1 + missense_variant 3119596 1 C 1 T P/S 17 1 228 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119610 0 C 1 T - 17 1 232 ENSG00000172146 ENST00000304094
1 + missense_variant 3119627 1 C 1 T S/F 17 1 238 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119640 0 C 1 A - 17 1 242 ENSG00000172146 ENST00000304094
1 + missense_variant 3119672 1 C 1 T T/I 17 1 253 ENSG00000172146 ENST00000304094
1 + missense_variant 3119395 1 C 1 A L/M 17 1 161 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119403 0 A 1 G - 17 1 163 ENSG00000172146 ENST00000304094
1 + missense_variant 3119386 1 C 1 T P/S 17 1 158 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119289 0 C 1 A - 17 1 125 ENSG00000172146 ENST00000304094
1 + stop_gained 3118972 1 C 1 T - 17 1 20 ENSG00000172146 ENST00000304094
1 + missense_variant 3118978 1 G 1 A E/K 17 1 22 ENSG00000172146 ENST00000304094
1 + missense_variant 3118986 1 A 1 C E/D 17 1 24 ENSG00000172146 ENST00000304094
1 + missense_variant 3119002 1 C 1 T L/F 17 1 30 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119029 0 T 1 C - 17 1 39 ENSG00000172146 ENST00000304094
1 + missense_variant 3119074 1 C 1 T R/C 17 1 54 ENSG00000172146 ENST00000304094
1 + missense_variant 3119075 1 G 1 A R/H 17 1 54 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119076 0 C 1 T - 17 1 54 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119115 0 C 1 T - 17 1 67 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119139 0 G 1 A - 17 1 75 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3119187 0 C 1 T - 17 1 91 ENSG00000172146 ENST00000304094
1 + missense_variant 3119210 1 C 1 T T/M 17 1 99 ENSG00000172146 ENST00000304094
1 + missense_variant 3119217 1 G 1 A M/I 17 1 101 ENSG00000172146 ENST00000304094
1 + missense_variant 3119264 1 C 1 T A/V 17 1 117 ENSG00000172146 ENST00000304094
1 + missense_variant 3119269 1 G 1 A A/T 17 1 119 ENSG00000172146 ENST00000304094
1 + missense_variant 3118961 1 G 1 A G/E 17 1 16 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3118956 0 C 1 A - 17 1 14 ENSG00000172146 ENST00000304094
0 + synonymous_variant 3118944 0 G 1 A - 17 1 10 ENSG00000172146 ENST00000304094
1 + missense_variant 3118928 1 A 1 C N/T 17 1 5 ENSG00000172146 ENST00000304094
1 MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
2 2 + missense_variant 3119330 2 G 2 A R/Q 17 2 139 ENSG00000172146 ENST00000304094
3 2 + missense_variant 3119138 2 C 2 T S/L 17 2 75 ENSG00000172146 ENST00000304094
4 0 + synonymous_variant 3119772 0 C 2 T - 17 2 286 ENSG00000172146 ENST00000304094
5 1 + missense_variant 3119791 1 C 1 T R/W 17 1 293 ENSG00000172146 ENST00000304094
6 1 + missense_variant 3119799 1 G 1 A M/I 17 1 295 ENSG00000172146 ENST00000304094
7 0 + synonymous_variant 3119805 0 T 1 C - 17 1 297 ENSG00000172146 ENST00000304094
8 0 + synonymous_variant 3119823 0 C 1 T - 17 1 303 ENSG00000172146 ENST00000304094
9 1 + missense_variant 3119786 1 G 1 A R/K 17 1 291 ENSG00000172146 ENST00000304094
10 1 + missense_variant 3119744 1 C 1 G T/R 17 1 277 ENSG00000172146 ENST00000304094
11 0 + synonymous_variant 3119691 0 C 1 T - 17 1 259 ENSG00000172146 ENST00000304094
12 0 + synonymous_variant 3119589 0 C 1 T - 17 1 225 ENSG00000172146 ENST00000304094
13 1 + missense_variant 3119408 1 G 1 A S/N 17 1 165 ENSG00000172146 ENST00000304094
14 1 + missense_variant 3119431 1 G 1 A E/K 17 1 173 ENSG00000172146 ENST00000304094
15 1 + missense_variant 3119462 1 C 1 T P/L 17 1 183 ENSG00000172146 ENST00000304094
16 1 + stop_gained 3119514 1 C 1 G - 17 1 200 ENSG00000172146 ENST00000304094
17 1 + missense_variant 3119530 1 T 1 G F/V 17 1 206 ENSG00000172146 ENST00000304094
18 1 + missense_variant 3119581 1 A 1 G T/A 17 1 223 ENSG00000172146 ENST00000304094
19 1 + stop_gained 3119590 1 C 1 T - 17 1 226 ENSG00000172146 ENST00000304094
20 1 + missense_variant 3119679 1 G 1 T M/I 17 1 255 ENSG00000172146 ENST00000304094
21 0 + synonymous_variant 3119592 0 G 1 A - 17 1 226 ENSG00000172146 ENST00000304094
22 1 + missense_variant 3119596 1 C 1 T P/S 17 1 228 ENSG00000172146 ENST00000304094
23 0 + synonymous_variant 3119610 0 C 1 T - 17 1 232 ENSG00000172146 ENST00000304094
24 1 + missense_variant 3119627 1 C 1 T S/F 17 1 238 ENSG00000172146 ENST00000304094
25 0 + synonymous_variant 3119640 0 C 1 A - 17 1 242 ENSG00000172146 ENST00000304094
26 1 + missense_variant 3119672 1 C 1 T T/I 17 1 253 ENSG00000172146 ENST00000304094
27 1 + missense_variant 3119395 1 C 1 A L/M 17 1 161 ENSG00000172146 ENST00000304094
28 0 + synonymous_variant 3119403 0 A 1 G - 17 1 163 ENSG00000172146 ENST00000304094
29 1 + missense_variant 3119386 1 C 1 T P/S 17 1 158 ENSG00000172146 ENST00000304094
30 0 + synonymous_variant 3119289 0 C 1 A - 17 1 125 ENSG00000172146 ENST00000304094
31 1 + stop_gained 3118972 1 C 1 T - 17 1 20 ENSG00000172146 ENST00000304094
32 1 + missense_variant 3118978 1 G 1 A E/K 17 1 22 ENSG00000172146 ENST00000304094
33 1 + missense_variant 3118986 1 A 1 C E/D 17 1 24 ENSG00000172146 ENST00000304094
34 1 + missense_variant 3119002 1 C 1 T L/F 17 1 30 ENSG00000172146 ENST00000304094
35 0 + synonymous_variant 3119029 0 T 1 C - 17 1 39 ENSG00000172146 ENST00000304094
36 1 + missense_variant 3119074 1 C 1 T R/C 17 1 54 ENSG00000172146 ENST00000304094
37 1 + missense_variant 3119075 1 G 1 A R/H 17 1 54 ENSG00000172146 ENST00000304094
38 0 + synonymous_variant 3119076 0 C 1 T - 17 1 54 ENSG00000172146 ENST00000304094
39 0 + synonymous_variant 3119115 0 C 1 T - 17 1 67 ENSG00000172146 ENST00000304094
40 0 + synonymous_variant 3119139 0 G 1 A - 17 1 75 ENSG00000172146 ENST00000304094
41 0 + synonymous_variant 3119187 0 C 1 T - 17 1 91 ENSG00000172146 ENST00000304094
42 1 + missense_variant 3119210 1 C 1 T T/M 17 1 99 ENSG00000172146 ENST00000304094
43 1 + missense_variant 3119217 1 G 1 A M/I 17 1 101 ENSG00000172146 ENST00000304094
44 1 + missense_variant 3119264 1 C 1 T A/V 17 1 117 ENSG00000172146 ENST00000304094
45 1 + missense_variant 3119269 1 G 1 A A/T 17 1 119 ENSG00000172146 ENST00000304094
46 1 + missense_variant 3118961 1 G 1 A G/E 17 1 16 ENSG00000172146 ENST00000304094
47 0 + synonymous_variant 3118956 0 C 1 A - 17 1 14 ENSG00000172146 ENST00000304094
48 0 + synonymous_variant 3118944 0 G 1 A - 17 1 10 ENSG00000172146 ENST00000304094
49 1 + missense_variant 3118928 1 A 1 C N/T 17 1 5 ENSG00000172146 ENST00000304094

View File

@ -0,0 +1,113 @@
MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
5 + missense_variant 112926888 5 G 5 T G/V 12 5 503 ENSG00000179295 ENST00000351677
4 + missense_variant 112926270 4 C 4 T T/M 12 4 468 ENSG00000179295 ENST00000351677
3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000392597
3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000351677
2 + missense_variant 112926910 2 G 2 C Q/H 12 2 510 ENSG00000179295 ENST00000351677
2 + missense_variant 112926909 2 A 2 T Q/L 12 2 510 ENSG00000179295 ENST00000351677
2 + missense_variant 112926900 2 C 2 A T/K 12 2 507 ENSG00000179295 ENST00000351677
2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000392597
2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000392597
2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000392597
2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000392597
2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000351677
2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000351677
2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000351677
2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112893822 0 T 1 C - 12 1 82 ENSG00000179295 ENST00000530818
1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000392597
1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000392597
1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000392597
1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000392597
1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000392597
1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000392597
1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000392597
1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000392597
1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000392597
1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000392597
1 + missense_variant 112892383 1 G 1 C V/L 12 1 26 ENSG00000179295 ENST00000530818
0 + synonymous_variant 112892409 0 T 1 C - 12 1 34 ENSG00000179295 ENST00000530818
1 + stop_gained 112893784 1 G 1 T - 12 1 70 ENSG00000179295 ENST00000530818
0 + synonymous_variant 112893798 0 A 1 G - 12 1 74 ENSG00000179295 ENST00000530818
1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000392597
1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000392597
1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000392597
1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000392597
1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000392597
1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000392597
1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000392597
1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000392597
1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000392597
1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000392597
1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000392597
1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000392597
1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112893802 0 C 1 A - 12 1 76 ENSG00000179295 ENST00000530818
1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000392597
1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000392597
1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000392597
0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000351677
1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000351677
1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000351677
1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000351677
1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000351677
1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000351677
1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000351677
1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000351677
1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000351677
1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000351677
1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000351677
1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000351677
1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000351677
1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000351677
1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000351677
1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000351677
1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000351677
1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000351677
1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000392597
1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000351677
1 + missense_variant 112926887 1 G 1 C G/R 12 1 503 ENSG00000179295 ENST00000351677
1 + missense_variant 112926908 1 C 1 G Q/E 12 1 510.0 ENSG00000179295 ENST00000351677
1 + missense_variant 112939963 1 G 1 C G/R 12 1 539 ENSG00000179295 ENST00000351677
1 + missense_variant 112939970 1 A 1 T E/V 12 1 541 ENSG00000179295 ENST00000351677
1 + missense_variant 112939981 1 A 1 C I/L 12 1 545 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112939993 0 C 1 T - 12 1 549 ENSG00000179295 ENST00000351677
1 + missense_variant 112939999 1 G 1 A D/N 12 1 551 ENSG00000179295 ENST00000351677
1 + missense_variant 112940012 1 G 1 A G/E 12 1 555 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112940025 0 T 1 C - 12 1 559 ENSG00000179295 ENST00000351677
1 + missense_variant 112940027 1 T 1 C L/P 12 1 560 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112940031 0 G 1 A - 12 1 561 ENSG00000179295 ENST00000351677
1 + missense_variant 112940036 1 G 1 T C/F 12 1 563 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112940052 0 C 1 T - 12 1 568 ENSG00000179295 ENST00000351677
1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000392597
1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000392597
1 + missense_variant 112926885 1 C 1 T S/L 12 1 502 ENSG00000179295 ENST00000351677
1 + missense_variant 112926884 1 T 1 C S/P 12 1 502 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112926862 0 C 1 T - 12 1 494 ENSG00000179295 ENST00000351677
1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000351677
1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000351677
0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000351677
1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000351677
1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000351677
1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000351677
1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000351677
1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000351677
1 + missense_variant 112926852 1 C 1 T P/L 12 1 491 ENSG00000179295 ENST00000351677
1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000351677
1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000351677
1 + missense_variant 112926248 1 G 1 A A/T 12 1 461 ENSG00000179295 ENST00000351677
1 + missense_variant 112926249 1 C 1 G A/G 12 1 461 ENSG00000179295 ENST00000351677
1 + missense_variant 112926291 1 TT 1 CA L/P 12 1 475 ENSG00000179295 ENST00000351677
1 + missense_variant 112926839 1 G 1 T D/Y 12 1 487 ENSG00000179295 ENST00000351677
1 MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT
2 5 + missense_variant 112926888 5 G 5 T G/V 12 5 503 ENSG00000179295 ENST00000351677
3 4 + missense_variant 112926270 4 C 4 T T/M 12 4 468 ENSG00000179295 ENST00000351677
4 3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000392597
5 3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000351677
6 2 + missense_variant 112926910 2 G 2 C Q/H 12 2 510 ENSG00000179295 ENST00000351677
7 2 + missense_variant 112926909 2 A 2 T Q/L 12 2 510 ENSG00000179295 ENST00000351677
8 2 + missense_variant 112926900 2 C 2 A T/K 12 2 507 ENSG00000179295 ENST00000351677
9 2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000392597
10 2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000392597
11 2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000392597
12 2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000392597
13 2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000351677
14 2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000351677
15 2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000351677
16 2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000351677
17 0 + synonymous_variant 112893822 0 T 1 C - 12 1 82 ENSG00000179295 ENST00000530818
18 1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000392597
19 1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000392597
20 0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000392597
21 1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000392597
22 1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000392597
23 1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000392597
24 1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000392597
25 1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000392597
26 1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000392597
27 1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000392597
28 1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000392597
29 1 + missense_variant 112892383 1 G 1 C V/L 12 1 26 ENSG00000179295 ENST00000530818
30 0 + synonymous_variant 112892409 0 T 1 C - 12 1 34 ENSG00000179295 ENST00000530818
31 1 + stop_gained 112893784 1 G 1 T - 12 1 70 ENSG00000179295 ENST00000530818
32 0 + synonymous_variant 112893798 0 A 1 G - 12 1 74 ENSG00000179295 ENST00000530818
33 1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000392597
34 0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000392597
35 0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000392597
36 1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000392597
37 1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000392597
38 1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000392597
39 1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000392597
40 1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000392597
41 1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000392597
42 1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000392597
43 1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000392597
44 0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000392597
45 1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000392597
46 0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000392597
47 1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000392597
48 1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000392597
49 0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000392597
50 1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000392597
51 0 + synonymous_variant 112893802 0 C 1 A - 12 1 76 ENSG00000179295 ENST00000530818
52 1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000392597
53 1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000392597
54 1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000392597
55 0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000351677
56 1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000351677
57 1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000351677
58 1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000351677
59 1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000351677
60 1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000351677
61 1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000351677
62 1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000351677
63 1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000351677
64 1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000351677
65 0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000351677
66 1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000351677
67 1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000351677
68 0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000351677
69 1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000351677
70 0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000351677
71 1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000351677
72 1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000351677
73 1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000351677
74 0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000351677
75 1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000351677
76 1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000351677
77 0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000351677
78 1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000351677
79 0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000392597
80 1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000351677
81 1 + missense_variant 112926887 1 G 1 C G/R 12 1 503 ENSG00000179295 ENST00000351677
82 1 + missense_variant 112926908 1 C 1 G Q/E 12 1 510.0 ENSG00000179295 ENST00000351677
83 1 + missense_variant 112939963 1 G 1 C G/R 12 1 539 ENSG00000179295 ENST00000351677
84 1 + missense_variant 112939970 1 A 1 T E/V 12 1 541 ENSG00000179295 ENST00000351677
85 1 + missense_variant 112939981 1 A 1 C I/L 12 1 545 ENSG00000179295 ENST00000351677
86 0 + synonymous_variant 112939993 0 C 1 T - 12 1 549 ENSG00000179295 ENST00000351677
87 1 + missense_variant 112939999 1 G 1 A D/N 12 1 551 ENSG00000179295 ENST00000351677
88 1 + missense_variant 112940012 1 G 1 A G/E 12 1 555 ENSG00000179295 ENST00000351677
89 0 + synonymous_variant 112940025 0 T 1 C - 12 1 559 ENSG00000179295 ENST00000351677
90 1 + missense_variant 112940027 1 T 1 C L/P 12 1 560 ENSG00000179295 ENST00000351677
91 0 + synonymous_variant 112940031 0 G 1 A - 12 1 561 ENSG00000179295 ENST00000351677
92 1 + missense_variant 112940036 1 G 1 T C/F 12 1 563 ENSG00000179295 ENST00000351677
93 0 + synonymous_variant 112940052 0 C 1 T - 12 1 568 ENSG00000179295 ENST00000351677
94 1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000392597
95 1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000392597
96 1 + missense_variant 112926885 1 C 1 T S/L 12 1 502 ENSG00000179295 ENST00000351677
97 1 + missense_variant 112926884 1 T 1 C S/P 12 1 502 ENSG00000179295 ENST00000351677
98 0 + synonymous_variant 112926862 0 C 1 T - 12 1 494 ENSG00000179295 ENST00000351677
99 1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000351677
100 1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000351677
101 0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000351677
102 1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000351677
103 1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000351677
104 1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000351677
105 1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000351677
106 1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000351677
107 1 + missense_variant 112926852 1 C 1 T P/L 12 1 491 ENSG00000179295 ENST00000351677
108 1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000351677
109 1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000351677
110 1 + missense_variant 112926248 1 G 1 A A/T 12 1 461 ENSG00000179295 ENST00000351677
111 1 + missense_variant 112926249 1 C 1 G A/G 12 1 461 ENSG00000179295 ENST00000351677
112 1 + missense_variant 112926291 1 TT 1 CA L/P 12 1 475 ENSG00000179295 ENST00000351677
113 1 + missense_variant 112926839 1 G 1 T D/Y 12 1 487 ENSG00000179295 ENST00000351677