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OMIM:
CLINICAL GENOMICS DATABASE:
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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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

HLA-DQB1, MCC,
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
MCC Colorectal cancer, somatic, 114500 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 506
Number of Genes: 6

Export to: CSV

C6orf223

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 combined sample_92.variant37 6 rs755059764
dbSNP Clinvar
43970503 981.91 CG... CG... PASS 0/3 51 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None C6orf223|0.002567638|89.54%

HLA-DQB1

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 combined sample_92.variant37 6 rs1071637
dbSNP Clinvar
32632688 4117.54 T A,G,C PASS 0/3 432 NON_SYNONYMOUS_CODING MODERATE None 0.23445 0.09 0.01 None None None None None None HLA-DQB1|0.132406558|45.55%

MCC

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 combined sample_92.variant37 5 rs348942,rs775732898
dbSNP Clinvar
112824039 6634.42 T C,... PASS 0/3 207 NON_SYNONYMOUS_CODING MODERATE None 0.75599 0.75600 0.38278 None None None None None None MCC|0.469013944|17.21%

MDK

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 combined sample_92.variant37 11 rs760818036
dbSNP Clinvar
46404340 1700.36 GCCC GC... PASS 0/3 124 FRAME_SHIFT HIGH None None None None None None None MDK|0.315014935|26.43%

MUC6

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 combined sample_92.variant37 11 rs76461263
dbSNP Clinvar
1016978 2216.51 T C,A,G PASS 0/3 1376 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.08 -2.49 None None None None None None MUC6|0.00166044|92.04%

PDE4DIP

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 combined sample_92.variant37 1 rs66593379
dbSNP Clinvar
145014186 1305.56 GAA G,... PASS 0/3 72 None None None None None None None None None PDE4DIP|0.07469644|56.36%
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 combined sample_92.variant37 1 . 60228548 61.5 CT CT... PASS 0/3 28 None None None None None None None None None FGGY|0.413612301|19.95%
View combined sample_92.variant37 1 rs67286337,rs58308955
dbSNP Clinvar
65141676 213.61 TT... T,... PASS 0/3 4 None None None None None None None None None CACHD1|0.388783609|21.49%
View combined sample_92.variant37 1 rs376387346,rs67471448
dbSNP Clinvar
109898267 569.21 GC GC... PASS 0/3 12 None None None None None None None None None SORT1|0.521925394|14.9%
View combined sample_92.variant37 1 rs900221251
dbSNP Clinvar
110564996 199.97 CA... CA... PASS 0/3 89 None None None None None None None None None AHCYL1|0.702188484|8.43%
View combined sample_92.variant37 1 . 145532010 227.92 CTGTG CT... PASS 0/3 39 None None None None None None None None None ITGA10|0.19922526|36.8%
View combined sample_92.variant37 1 . 153662584 77.04 GT... GT... PASS 0/3 4 None None None None None None None None None NPR1|0.374838919|22.41%
View combined sample_92.variant37 1 . 171672563 106.5 GT... G,... PASS 0/3 12 None None None None None None None None None VAMP4|0.639345976|10.48%
View combined sample_92.variant37 1 rs751212129
dbSNP Clinvar
179877048 158.45 CT CT... PASS 0/3 31 None None None None None None None None None TOR1AIP1|0.027435829|70.68%
View combined sample_92.variant37 1 rs561485132
dbSNP Clinvar
183605193 304.59 TG TG... PASS 0/3 40 None None None 0.00080 0.00839 None None None None None None None
View combined sample_92.variant37 1 . 210522080 361.23 CGT CG... PASS 0/3 9 None None None None None None None None None HHAT|0.140025709|44.39%
View combined sample_92.variant37 1 rs878909599
dbSNP Clinvar
220323793 441.22 CTT CT... PASS 0/3 62 None None None None None None None None None RAB3GAP2|0.100403467|51.08%
View combined sample_92.variant37 1 . 225681766 1161.28 CAAA CA... PASS 0/3 24 None None None None None None None None None ENAH|0.276011653|29.45%
View combined sample_92.variant37 1 rs774021878
dbSNP Clinvar
236714292 731.68 TA TA... PASS 0/3 43 None None None None None None None None None LGALS8|0.03333972|68.01%,HEATR1|0.11883394|47.61%
View combined sample_92.variant37 1 . 236924732 272.02 CG... C,... PASS 0/3 9 None None None None None None None None None ACTN2|0.55570405|13.49%
View combined sample_92.variant37 1 rs397516499
dbSNP Clinvar
237905570 43.08 CT C,... PASS 0/3 23 None None None None None None None None None RYR2|0.544008282|14.03%
View combined sample_92.variant37 2 rs878986202
dbSNP Clinvar
1636938 602.4 CT C,... PASS 0/3 163 None None None None None None None None None PXDN|0.054174855|61.43%
View combined sample_92.variant37 2 rs764437594
dbSNP Clinvar
27466258 342.9 CTTT C,... PASS 0/3 67 None None None None None None None None None CAD|0.237806166|32.61%
View combined sample_92.variant37 2 rs542617714,rs60397727
dbSNP Clinvar
29170730 54.88 GTT G,... PASS 0/3 20 None None None 0.41554 0.41550 None None None None None None WDR43|0.3588873|23.51%
View combined sample_92.variant37 2 . 44542061 107.94 ATT AT... PASS 0/3 16 None None None None None None None None None SLC3A1|0.054706734|61.26%
View combined sample_92.variant37 2 rs878869073
dbSNP Clinvar
75120159 1372.33 CT CT... PASS 0/3 164 None None None None None None None None None HK2|0.435064932|18.94%
View combined sample_92.variant37 2 rs3081153
dbSNP Clinvar
75719537 548.19 T TA... PASS 0/3 85 None None None 0.26218 None None None None None None EVA1A|0.072029356|56.98%
View combined sample_92.variant37 2 . 118851239 912.49 TG... T,... PASS 0/3 118 None None None None None None None None None INSIG2|0.81414459|5.48%
View combined sample_92.variant37 2 . 161350053 333.03 TT... TT... PASS 0/3 30 None None None None None None None None None RBMS1|0.835544119|4.97%
View combined sample_92.variant37 2 rs796844841
dbSNP Clinvar
211163063 260.8 TAC T,... PASS 0/3 71 None None None None None None None None None MYL1|0.569568258|13.02%
View combined sample_92.variant37 2 rs139782680,rs3217488
dbSNP Clinvar
214015179 247.68 C CC... PASS 0/3 16 None None None None None None None None None IKZF2|0.914200502|3.13%
View combined sample_92.variant37 2 rs879223516
dbSNP Clinvar
217537025 120.82 GT G,... PASS 0/3 39 None None None None None None None None None IGFBP5|0.537943389|14.28%
View combined sample_92.variant37 2 rs549562366
dbSNP Clinvar
217537045 93.84 CT C,... PASS 0/3 29 None None None 0.05192 0.05192 None None None None None None IGFBP5|0.537943389|14.28%
View combined sample_92.variant37 2 . 232996653 33.15 CA... CA... PASS 0/3 18 None None None None None None None None None DIS3L2|0.190337197|37.78%
View combined sample_92.variant37 2 rs878910347
dbSNP Clinvar
233392020 467.04 AAGAG AA... PASS 0/3 26 None None None None None None None None None CHRND|0.13866666|44.59%
View combined sample_92.variant37 3 . 361274 106.05 CAAA CA... PASS 0/3 31 None None None None None None None None None None
View combined sample_92.variant37 3 rs373242375
dbSNP Clinvar
3099495 1938.41 CA CA... PASS 0/3 138 None None None None None None None None None CNTN4|0.758140284|6.9%
View combined sample_92.variant37 3 . 32524208 240.91 CTTT CT... PASS 0/3 74 None None None None None None None None None CMTM7|0.045594839|64.01%,CMTM6|0.00546836|85.24%
View combined sample_92.variant37 3 rs199563424
dbSNP Clinvar
75718184 91.56 C T,A,G PASS 0/3 49 None None None None None None None None None None
View combined sample_92.variant37 3 . 49021039 667.38 CA CA... PASS 0/3 82 None None None None None None None None None ARIH2|0.470383074|17.16%
View combined sample_92.variant37 3 rs796206524
dbSNP Clinvar
101370529 536.43 TAA T,... PASS 0/3 43 None None None None None None None None None ZBTB11|0.313137276|26.59%
View combined sample_92.variant37 3 rs11299195
dbSNP Clinvar
101579643 658.23 TA AA... PASS 0/3 34 None None None 0.31010 0.31010 None None None None None None NFKBIZ|0.268167503|30.02%
View combined sample_92.variant37 3 . 167764594 395.3 CAA CA... PASS 0/3 40 None None None None None None None None None GOLIM4|0.044091032|64.49%
View combined sample_92.variant37 3 rs774229175
dbSNP Clinvar
124686301 508.97 ATTT AT... PASS 0/3 44 None None None None None None None None None HEG1|0.04030264|65.66%
View combined sample_92.variant37 5 . 127523981 221.1 CTTT CT... PASS 0/3 32 None None None None None None None None None SLC12A2|0.338805672|24.91%
View combined sample_92.variant37 3 . 183205292 97.39 CAA CA... PASS 0/3 5 None None None None None None None None None None
View combined sample_92.variant37 3 rs375215213,rs71180934
dbSNP Clinvar
195295708 1514.42 G GG... PASS 0/3 34 None None None 0.03994 0.18610 None None None None None None APOD|0.102094416|50.79%
View combined sample_92.variant37 3 rs557601172
dbSNP Clinvar
195311028 95.95 C CG... PASS 0/3 19 None None None None None None None None None APOD|0.102094416|50.79%
View combined sample_92.variant37 3 rs113722473
dbSNP Clinvar
195473756 1818.96 CG... C,... PASS 0/3 117 None None None None None None None None None MUC4|0.005441696|85.29%
View combined sample_92.variant37 4 rs879139137
dbSNP Clinvar
129784049 414.14 CTG CT... PASS 0/3 36 None None None None None None None None None JADE1|0.17034027|40.27%
View combined sample_92.variant37 4 rs752040118,rs537551687,rs3215202
dbSNP Clinvar
46994972 538.63 GA G,... PASS 0/3 36 None None None 0.15400 None None None None None None GABRA4|0.302134042|27.48%
View combined sample_92.variant37 4 rs375911533
dbSNP Clinvar
47034144 231.56 G GA... PASS 0/3 17 None None None None None None None None None GABRB1|0.572974725|12.87%
View combined sample_92.variant37 4 . 82348135 92.5 CA... CA... PASS 0/3 22 None None None None None None None None None RASGEF1B|0.464785707|17.39%
View combined sample_92.variant37 4 . 88059642 1136.92 GG... GG... PASS 0/3 107 None None None None None None None None None AFF1|0.048316691|63.19%
View combined sample_92.variant37 4 rs201738503
dbSNP Clinvar
190943810 163.66 G C,A,T PASS 0/3 25 None None None None None None None None None None
View combined sample_92.variant37 4 rs564996022
dbSNP Clinvar
183090227 433.71 TAC TA... PASS 0/3 18 None None None None None None None None None TENM3|0.916849963|3.06%
View combined sample_92.variant37 4 . 183635468 1255.49 CA... C,... PASS 0/3 14 None None None None None None None None None TENM3|0.916849963|3.06%
View combined sample_92.variant37 5 rs530676282,rs368360524
dbSNP Clinvar
1799989 171.03 CG CG... PASS 0/3 13 None None None 0.37121 0.37120 None None None None None None MRPL36|0.002012562|90.97%
View combined sample_92.variant37 5 . 2746127 373.63 CT C,... PASS 0/3 247 None None None None None None None None None IRX2|0.220963975|34.31%
View combined sample_92.variant37 5 rs62330542,rs70965988
dbSNP Clinvar
6337065 828.1 T C,... PASS 0/3 20 None None None None None None None None None None
View combined sample_92.variant37 5 . 10391548 166.34 GTT GT... PASS 0/3 26 None None None None None None None None None MARCH6|0.225001511|33.87%
View combined sample_92.variant37 5 rs10434576,rs555038587,rs70988830
dbSNP Clinvar
41033931 1588.67 C T,... PASS 0/3 26 None None None 0.34185 0.34190 None None None None None None MROH2B|0.069922794|57.5%
View combined sample_92.variant37 5 rs747485071
dbSNP Clinvar
50034549 32.45 TAA TA... PASS 0/3 4 None None None None None None None None None PARP8|0.488792506|16.37%
View combined sample_92.variant37 5 . 43705873 1826.67 ATG AT... PASS 0/3 89 None None None None None None None None None NNT|0.799829861|5.84%
View combined sample_92.variant37 5 rs780586954
dbSNP Clinvar
52781902 246.99 CA... C,... PASS 0/3 16 None None None None None None None None None FST|0.995211585|0.8%
View combined sample_92.variant37 5 rs879110967
dbSNP Clinvar
66463092 311.8 CA... CA... PASS 0/3 39 None None None None None None None None None MAST4|0.51813717|15.06%
View combined sample_92.variant37 5 . 68524848 106.05 CA... CA... PASS 0/3 5 None None None None None None None None None MRPS36|0.228742101|33.47%
View combined sample_92.variant37 5 rs765661151,rs3075597
dbSNP Clinvar
141034749 164.65 TACAC TA... PASS 0/3 6 None None None None None None None None None ARAP3|0.158448394|41.8%
View combined sample_92.variant37 5 . 145889881 49.22 TAAA TA... PASS 0/3 10 None None None None None None None None None TCERG1|0.882596815|3.91%
View combined sample_92.variant37 5 rs778505426,rs545628499
dbSNP Clinvar
142421287 591.27 GAAA GA... PASS 0/3 33 None None None None None None None None None ARHGAP26|0.689373516|8.81%
View combined sample_92.variant37 5 . 143539270 741.41 CT CT... PASS 0/3 75 None None None None None None None None None YIPF5|0.43214288|19.06%
View combined sample_92.variant37 5 . 177419215 54.88 CAAA CA... PASS 0/3 3 None None None None None None None None None None
View combined sample_92.variant37 6 rs10642379,rs60248644
dbSNP Clinvar
346429 2615.51 G GA... PASS 0/3 194 None None None 0.22070 None None None None None None DUSP22|0.182900115|38.68%
View combined sample_92.variant37 6 . 15521302 133.34 TA TA... PASS 0/3 11 None None None None None None None None None JARID2|0.58982626|12.14%
View combined sample_92.variant37 6 . 30859324 2518.99 G GT... PASS 0/3 49 None None None None None None None None None DDR1|0.244168042|32.07%
View combined sample_92.variant37 6 rs201496890
dbSNP Clinvar
38520530 457.09 GA GA... PASS 0/3 22 None None None None None None None None None BTBD9|0.887289399|3.77%
View combined sample_92.variant37 6 rs776063546,rs562020383
dbSNP Clinvar
53784275 172.14 TA TT... PASS 0/3 24 None None None None None None None None None LRRC1|0.290228756|28.34%
View combined sample_92.variant37 6 . 56971106 154.31 CTT CT... PASS 0/3 39 None None None None None None None None None ZNF451|0.195609074|37.21%
View combined sample_92.variant37 7 rs201249203
dbSNP Clinvar
115898244 2197.47 ATTT AT... PASS 0/3 124 None None None None None None None None None TES|0.907015095|3.3%
View combined sample_92.variant37 6 . 123703101 267.09 GCTCT GC... PASS 0/3 25 None None None None None None None None None TRDN|0.11061284|49.08%
View combined sample_92.variant37 6 rs796908054,rs529565903
dbSNP Clinvar
126075709 216.77 ATT AT... PASS 0/3 70 None None None 0.17850 None None None None None None HEY2|0.662715118|9.61%
View combined sample_92.variant37 6 . 153018814 31.16 AAC A,... PASS 0/3 18 None None None None None None None None None None
View combined sample_92.variant37 6 . 158098882 708.94 TAA TA... PASS 0/3 46 None None None None None None None None None ZDHHC14|0.274873956|29.53%
View combined sample_92.variant37 6 . 167435747 43.7 AACAC AA... PASS 0/3 8 None None None None None None None None None FGFR1OP|0.042722758|64.88%
View combined sample_92.variant37 6 rs35977074
dbSNP Clinvar
167552416 162.24 C CA... PASS 0/3 9 None None None None None None None None None CCR6|0.006438685|84.13%
View combined sample_92.variant37 7 rs139104018,rs59841315
dbSNP Clinvar
41728700 296.43 CT... CT... PASS 0/3 30 None None None None None None None None None INHBA|0.767281454|6.68%
View combined sample_92.variant37 7 rs146476306,rs59505653
dbSNP Clinvar
31148360 285.25 AT... A,... PASS 0/3 22 None None None None None None None None None ADCYAP1R1|0.378678604|22.14%
View combined sample_92.variant37 7 rs796486741
dbSNP Clinvar
34097443 886.63 AAC AA... PASS 0/3 31 None None None None None None None None None BMPER|0.520309229|15%
View combined sample_92.variant37 7 rs781568135
dbSNP Clinvar
80456708 348.45 GTTTT GT... PASS 0/3 27 None None None None None None None None None SEMA3C|0.647207891|10.19%
View combined sample_92.variant37 7 rs776219864
dbSNP Clinvar
81641570 406.7 GA GA... PASS 0/3 21 None None None None None None None None None CACNA2D1|0.586589445|12.28%
View combined sample_92.variant37 7 . 98936001 53.63 ATT AT... PASS 0/3 11 None None None None None None None None None ARPC1A|0.420074509|19.57%
View combined sample_92.variant37 7 . 148880116 171.7 TA TA... PASS 0/3 7 None None None None None None None None None ZNF398|0.053629793|61.58%
View combined sample_92.variant37 8 . 17419689 213.59 AT... AT... PASS 0/3 11 None None None None None None None None None SLC7A2|0.046613784|63.7%
View combined sample_92.variant37 8 rs760223067
dbSNP Clinvar
24359125 1425.92 ATTT AT... PASS 0/3 21 None None None 0.39472 None None None None None None ADAM7|0.013206563|78.36%
View combined sample_92.variant37 8 . 42610184 46.4 CT C,... PASS 0/3 11 None None None None None None None None None CHRNA6|0.126088397|46.45%
View combined sample_92.variant37 8 . 57123859 467.5 TGCC TG... PASS 0/3 22 None None None None None None None None None PLAG1|0.514373016|15.18%
View combined sample_92.variant37 8 . 74564959 413.64 CA CA... PASS 0/3 46 None None None None None None None None None STAU2|0.593494241|12.01%
View combined sample_92.variant37 8 . 74888284 1270.33 AG... A,... PASS 0/3 16 None None None None None None None None None TMEM70|0.01706681|75.8%
View combined sample_92.variant37 8 . 131064981 95.29 GT GT... PASS 0/3 38 None None None None None None None None None ASAP1|0.438507149|18.75%
View combined sample_92.variant37 8 . 100134074 271.92 CTTT CT... PASS 0/3 19 None None None None None None None None None VPS13B|0.854148559|4.55%