SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

EMG1, HLA-A,
EMG1 Bowen-Conradi syndrome, 211180 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)

Genes at Clinical Genomics Database

EMG1, HLA-A,
EMG1 Bowen-Conradi syndrome
HLA-A Drug-induced toxicity, susceptibility to

Genes at HGMD

Summary

Number of Variants: 278
Number of Genes: 14

Export to: CSV

CLYBL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs3831038,rs57126726,rs796986882
dbSNP
100517195 3947.19 CTG CT... . 1/2 122 None None None 0.24677 None None None None None None None

EMG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs17857448
dbSNP
7080212 1048.29 T C,G . 1/2 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00052 None None None None None None None

FAM171B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs549897920
dbSNP
187559029 1438.19 A AC... . 1/2 57 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.17272 0.18950 None None None None None None None

HLA-A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs9256983
dbSNP
29911228 597.29 A C,T . 1/2 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05571 0.18950 0.65 0.00 None None None None None None None
View mm170241ct 6 rs2075684
dbSNP
29910558 110.29 T A,C . 1/2 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22025 0.22020 0.34926 1.00 0.00 None None None None None None None

KRI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs570294642
dbSNP
10676487 819.19 G GC... . 1/2 35 None None None 0.39040 None None None None None None None

LINC00955

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs72180705,rs66807249
dbSNP
3590823 2969.19 GACAC G,GAC . 1/2 95 FRAME_SHIFT HIGH None None None None None None None

MANEA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs148967607
dbSNP
96034881 2359.19 A AT... . 1/2 80 None None None 0.00080 0.00120 None None None None None None None

MUC3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs28379747
dbSNP
100550079 35619.29 A C,G . 1/2 224 SYNONYMOUS_CODING LOW SILENT 0.32388 0.32390 None None None None None None None

NOP9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs113258190
dbSNP
24769849 826.19 A AG... . 1/2 38 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

PAWR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs2307223
dbSNP
80014907 2295.29 A C,T . 1/2 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29972 0.29970 0.23189 1.00 0.00 None None None None None None None

RAD23B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs5899731,rs539541320,rs3056494
dbSNP
110093970 4323.19 CA CAA,C . 1/2 189 None None None 0.65810 None None None None None None None

RBM19

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs2290787
dbSNP
114374887 729.29 T A,C . 1/2 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07708 0.07708 0.08219 0.83 0.00 None None None None None None None

TRAK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs753440774
dbSNP
42251577 1147.19 CGGA C,... . 1/2 61 None None None None None None None None None None

ZNF717

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs76179262
dbSNP
75788152 462.29 T C,G . 1/2 595 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.00 None None None None None None None
View mm170241ct 3 rs2118754
dbSNP
75786080 34176.29 G A,T . 1/2 254 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62061 0.62060 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs143540272
dbSNP
55049088 34539.19 A AA... . 1/2 96 None None None None None None None None None None
View mm170241ct 19 rs611356
dbSNP
54257185 1825.29 C A,G . 1/2 63 None None None 0.05252 0.05252 None None None None None None None
View mm170241ct 19 rs371907605
dbSNP
49685708 1412.19 CC... C,... . 1/2 27 None None None None None None None None None None
View mm170241ct 19 rs10423289
dbSNP
47548327 208.29 A C,T . 1/2 9 None None None 0.87580 0.87580 None None None None None None None
View mm170241ct 19 rs57244256,rs796650954
dbSNP
45024879 535.19 CGT C,... . 1/2 24 None None None None None None None None None None
View mm170241ct 19 rs145279680,rs772541874
dbSNP
21116763 2455.19 AT... AT... . 1/2 63 None None None None None None None None None None
View mm170241ct 19 rs782134969
dbSNP
11534503 329.19 TGG T,TG . 1/2 15 None None None None None None None None None None
View mm170241ct 19 rs536662338,rs56273613
dbSNP
6161110 191.19 C CA... . 1/2 19 None None None 0.59066 0.59070 None None None None None None None
View mm170241ct 18 rs144614464,rs201681820
dbSNP
61391449 2727.19 C CT... . 1/2 69 None None None None None None None None None None
View mm170241ct 18 rs768422612
dbSNP
43450753 196.19 TAA T,TA . 1/2 15 None None None None None None None None None None
View mm170241ct 18 rs201837011
dbSNP
5960034 578.19 TA... T,TAC . 1/2 25 None None None 0.32498 None None None None None None None
View mm170241ct 18 rs3034920
dbSNP
10731665 1061.19 AT ATT,A . 1/2 50 None None None 0.35943 0.35940 None None None None None None None
View mm170241ct 17 . 67080811 1349.19 CTT C,CT . 1/2 92 None None None None None None None None None None
View mm170241ct 17 rs796263584,rs869152362
dbSNP
64049620 420.19 AAAT AA... . 1/2 10 None None None 0.43810 0.53630 None None None None None None None
View mm170241ct 17 rs780926254
dbSNP
57663596 1434.19 TAA T,TA . 1/2 395 None None None None None None None None None None
View mm170241ct 17 rs201025012
dbSNP
55055741 333.19 CTT C,CT . 1/2 24 None None None None None None None None None None
View mm170241ct 17 rs57059036,rs796931688
dbSNP
46939410 422.19 CAA C,CA . 1/2 24 None None None None None None None None None None
View mm170241ct 17 rs148357525,rs60359036
dbSNP
45623439 700.19 T TG... . 1/2 62 None None None None None None None None None None
View mm170241ct 17 rs762001327
dbSNP
41361881 574.19 ATT A,AT . 1/2 59 None None None None None None None None None None
View mm170241ct 17 rs766707176,rs67951062,rs11385090,rs200853608
dbSNP
13399486 697.19 A AT... . 1/2 30 None None None 0.38580 None None None None None None None
View mm170241ct 17 rs71299857,rs763932660,rs398039408
dbSNP
16052606 256.19 C CA... . 1/2 28 None None None None None None None None None None
View mm170241ct 17 rs767530437
dbSNP
16011493 396.19 CAA C,CA . 1/2 89 None None None None None None None None None None
View mm170241ct 17 rs71389703,rs533551742
dbSNP
7726665 705.19 C CA... . 1/2 29 None None None 0.31769 0.32970 None None None None None None None
View mm170241ct 17 rs66829383
dbSNP
10443676 553.19 CAA CA... . 1/2 22 None None None 0.81570 0.81570 None None None None None None None
View mm170241ct 17 rs56134360,rs398058550
dbSNP
7307103 466.19 ACC A,AC . 1/2 25 None None None None None None None None None None
View mm170241ct 17 rs752570632
dbSNP
8052531 483.19 CA... C,... . 1/2 26 None None None 0.26997 0.27000 0.48337 None None None None None None None
View mm170241ct 17 rs369435246
dbSNP
4544978 701.19 G GA... . 1/2 32 None None None 0.01917 0.84960 None None None None None None None
View mm170241ct 16 rs142704908,rs397791730
dbSNP
83775105 731.19 A AT... . 1/2 28 None None None 0.21046 0.21050 None None None None None None None
View mm170241ct 16 rs545566393,rs776848329,rs60080524
dbSNP
79619727 1068.19 GAAA GA,G . 1/2 49 None None None 0.85623 0.85620 None None None None None None None
View mm170241ct 16 rs766045263
dbSNP
66757728 2037.19 GAA G,GA . 1/2 96 None None None None None None None None None None
View mm170241ct 16 rs34204387,rs5816746
dbSNP
51177327 1992.19 G GA... . 1/2 122 None None None 0.92392 0.92390 None None None None None None None
View mm170241ct 16 rs149209378
dbSNP
33395797 118.19 AAAT AA... . 1/2 27 None None None None None None None None None None
View mm170241ct 16 rs139504024
dbSNP
25163017 526.19 G GG... . 1/2 52 None None None None None None None None None None
View mm170241ct 16 rs113369901,rs60449468
dbSNP
16219596 1421.19 G GA... . 1/2 37 None None None 0.17372 0.22240 None None None None None None None
View mm170241ct 16 rs111364972
dbSNP
10625605 651.19 GA... GA... . 1/2 14 None None None None None None None None None None
View mm170241ct 15 rs796403415,rs554187489
dbSNP
101550861 1378.19 CTT C,CT . 1/2 139 None None None 0.22120 None None None None None None None
View mm170241ct 15 rs72311245,rs71151601
dbSNP
91043192 3013.19 AT... AT... . 1/2 39 None None None None None None None None None None
View mm170241ct 15 rs34776818
dbSNP
72864578 435.19 ATT A,AT . 1/2 45 None None None None None None None None None None
View mm170241ct 15 rs35287636
dbSNP
59190805 738.19 A AA... . 1/2 29 None None None 0.07288 0.07288 None None None None None None None
View mm170241ct 15 rs758426758
dbSNP
56243792 217.19 TAA T,TA . 1/2 32 None None None None None None None None None None
View mm170241ct 15 rs367768493
dbSNP
32393486 473.19 C CT... . 1/2 69 None None None None None None None None None None
View mm170241ct 15 rs3215044
dbSNP
40329480 693.19 G GA... . 1/2 66 None None None 0.10780 None None None None None None None
View mm170241ct 15 rs3963874
dbSNP
20448077 35635.29 T A,C . 1/2 340 None None None 0.27975 0.27980 None None None None None None None
View mm170241ct 14 rs767247510
dbSNP
103933341 210.19 CAAA CA,C . 1/2 25 None None None None None None None None None None
View mm170241ct 14 rs34674555,rs796760243
dbSNP
96770952 933.19 CAA C,CA . 1/2 55 None None None 0.19610 None None None None None None None
View mm170241ct 14 . 75506549 779.19 CA... CAT,C . 1/2 28 None None None None None None None None None None
View mm170241ct 14 rs113744998,rs386381427
dbSNP
55902698 782.19 T TA... . 1/2 53 None None None 0.43391 0.43390 None None None None None None None
View mm170241ct 14 rs71443128,rs34897289,rs397792078
dbSNP
51344584 408.19 C CA... . 1/2 21 None None None None None None None None None None
View mm170241ct 14 . 51230431 272.19 CTTTT C,... . 1/2 16 None None None 0.16710 None None None None None None None
View mm170241ct 14 . 35242709 402.19 CAA C,CA . 1/2 31 None None None None None None None None None None
View mm170241ct 14 rs747587037
dbSNP
31819966 1113.19 TT... T,... . 1/2 72 None None None None None None None None None None
View mm170241ct 13 rs796263369
dbSNP
79894877 1204.19 CAA C,CA . 1/2 95 None None None None None None None None None None
View mm170241ct 13 rs592246
dbSNP
98640318 3764.29 C G,T . 1/2 128 None None None 0.14317 0.14320 None None None None None None None
View mm170241ct 13 rs3039280,rs386379143,rs386379144,rs397807681
dbSNP
50121311 907.19 C CA... . 1/2 58 None None None 0.61482 0.61480 None None None None None None None
View mm170241ct 13 rs199898517,rs750690591
dbSNP
28647489 495.19 GAA G,GA . 1/2 61 None None None None None None None None None None
View mm170241ct 13 rs11446085,rs58481196
dbSNP
21729952 917.19 T TA... . 1/2 70 None None None 0.28910 None None None None None None None
View mm170241ct 12 rs55788836,rs575793819,rs398021683
dbSNP
131476665 629.19 CAAA CA,C . 1/2 32 None None None 0.41010 None None None None None None None
View mm170241ct 12 . 123031379 673.2 ATT A,AT . 1/2 74 None None None None None None None None None None
View mm170241ct 12 rs35483741,rs5801473
dbSNP
122762763 376.19 G GA... . 1/2 55 None None None None None None None None None None
View mm170241ct 12 . 121444022 225.19 AA... A,AA . 1/2 19 None None None None None None None None None None
View mm170241ct 12 rs10549054,rs764780730
dbSNP
116586414 893.19 CTA C,... . 1/2 68 None None None None None None None None None None
View mm170241ct 12 rs755729442
dbSNP
106820957 835.21 CTT C,CT . 1/2 95 None None None None None None None None None None
View mm170241ct 12 rs112161070,rs10668571,rs57213720
dbSNP
104025219 419.19 T TA... . 1/2 23 None None None 0.46130 None None None None None None None
View mm170241ct 12 rs149586274,rs768430855,rs57548373
dbSNP
105260159 811.19 TA... T,... . 1/2 30 None None None None None None None None None None
View mm170241ct 12 rs66560167,rs552701886,rs398020718
dbSNP
96677225 354.19 GTT G,GT . 1/2 19 None None None None None None None None None None
View mm170241ct 12 rs10694512
dbSNP
95500700 1374.19 A AA... . 1/2 105 None None None 0.03794 0.27340 None None None None None None None
View mm170241ct 12 rs745686549,rs549802575
dbSNP
102131090 775.19 TAA T,TA . 1/2 81 None None None 0.09545 None None None None None None None
View mm170241ct 12 . 72023336 525.19 TACAC T,TAC . 1/2 36 None None None None None None None None None None
View mm170241ct 12 rs200930771,rs531086138
dbSNP
70065126 486.19 CTT C,CT . 1/2 27 None None None 0.30670 None None None None None None None
View mm170241ct 12 rs201265807,rs527312454
dbSNP
66716345 364.19 CAAAA C,CA . 1/2 18 None None None None None None None None None None
View mm170241ct 12 rs112964973,rs77582486,rs398076698,rs56094111
dbSNP
64055347 860.19 G GA... . 1/2 49 None None None 0.70308 0.70310 None None None None None None None
View mm170241ct 12 rs766756149
dbSNP
42768646 843.19 G GT... . 1/2 43 None None None None None None None None None None
View mm170241ct 12 rs537765469
dbSNP
21791410 537.25 TAA T,TA . 1/2 48 None None None 0.01198 0.01198 None None None None None None None
View mm170241ct 12 rs202204123
dbSNP
7982753 481.19 CTT C,CT . 1/2 52 None None None 0.00479 0.27700 None None None None None None None
View mm170241ct 12 rs5796325
dbSNP
9021053 844.19 C CG... . 1/2 38 None None None 0.00100 0.06450 None None None None None None None
View mm170241ct 12 rs67188535,rs869090995,rs398055265
dbSNP
3409383 489.19 ATTT A,ATT . 1/2 19 None None None 0.09724 0.79170 None None None None None None None
View mm170241ct 11 rs146732097,rs61522951
dbSNP
134054705 1600.56 TA... TA... . 1/2 59 None None None None None None None None None None
View mm170241ct 11 rs773056118,rs544108921,rs563412144
dbSNP
108014684 589.19 ACC A,AC . 1/2 42 None None None 0.19210 None None None None None None None
View mm170241ct 11 rs750054306
dbSNP
107969300 1349.19 GTT G,GT . 1/2 131 None None None None None None None None None None
View mm170241ct 11 rs72369292,rs5794191
dbSNP
102592049 2297.19 TTGTG T,... . 1/2 53 None None None 0.00100 0.00000 None None None None None None None
View mm170241ct 11 rs3831469,rs35667773,rs56944511
dbSNP
94704689 1340.19 A AA... . 1/2 64 None None None 0.11142 0.39320 None None None None None None None
View mm170241ct 11 rs754151985
dbSNP
102080325 579.19 GAA G,GA . 1/2 51 None None None None None None None None None None
View mm170241ct 11 rs58778620,rs869154856,rs398016183
dbSNP
58492073 1092.19 GTT G,GT . 1/2 58 None None None 0.24840 0.66650 None None None None None None None
View mm170241ct 11 rs542093359
dbSNP
49356400 1805.27 GTT G,GT . 1/2 124 None None None 0.00839 0.13080 None None None None None None None