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EXCLUDE VARIANTS AT VARISNP
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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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
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Genes at Omim

CDSN, CEP152, CTSA, GIGYF2, IRF5, MUC5B, SMARCA2, TRIOBP, VEGFC,
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
CEP152 Microcephaly 9, primary, autosomal recessive, 614852 (3)
Seckel syndrome 5, 613823 (3)
CTSA Galactosialidosis, 256540 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
VEGFC Lymphatic malformation 4, 615907 (3)

Genes at Clinical Genomics Database

CDSN, CEP152, CTSA, GIGYF2, SMARCA2, TRIOBP, VEGFC,
CDSN Hypotrichosis 2
Peeling skin syndrome 1
CEP152 Seckel syndrome 5
Microcephaly 9, primary, autosomal recessive
CTSA Galactosialidosis
GIGYF2 Parkinson disease, autosomal dominant, 11
SMARCA2 Nicolaides-Baraitser syndrome
TRIOBP Deafness, autosomal recessive 28
VEGFC Lymphedema, hereditary, ID

Genes at HGMD

Summary

Number of Variants: 57
Number of Genes: 55

Export to: CSV
  • Page 1 of 1

ALLC

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 allfamilies AWM 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP Clinvar
3749151 439.62 GGAA G PASS 0/1 111 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.41194 0.41190 0.49313 None None None None None None ALLC|0.091233568|52.99%

ALPK2

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 allfamilies AWM 18 rs67925233
dbSNP Clinvar
56204387 864.81 AC... A PASS 0/1 188 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%
View allfamilies AWM 18 rs141586980
dbSNP Clinvar
56203252 368.31 AAAG A PASS 0/1 134 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07208 0.07208 0.11480 None None None None None None ALPK2|0.002935349|88.74%

ANP32E

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 allfamilies AWM 1 rs68136184,rs56692627
dbSNP Clinvar
150199039 280.22 CT... C PASS 0/1 38 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.35064 0.35060 0.20257 None None None None None None ANP32E|0.463617374|17.49%

APLP2

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 allfamilies AWM 11 rs71750553,rs3837393
dbSNP Clinvar
129991652 337.396 TG... T PASS 0/1 125 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09145 0.09145 0.13069 None None None None None None APLP2|0.296909863|27.89%

APOBEC3H

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 allfamilies AWM 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 494.218 TAAC T PASS 0/1 156 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%

ATF7IP2

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 allfamilies AWM 16 rs56252625,rs113642662,rs571414967
dbSNP Clinvar
10524656 1835.7 GGAC G PASS 0/1 225 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.60324 0.60320 0.41109 None None None None None None ATF7IP2|0.022985481|72.74%

C22orf43

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 allfamilies AWM 22 rs10564183,rs142649853,rs3831377
dbSNP Clinvar
23964282 215.44 GCAT G PASS 0/1 81 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.12400 0.12400 None None None None None None DRICH1|0.000706827|97.22%

CD3EAP

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 allfamilies AWM 19 rs35729377,rs374686338
dbSNP Clinvar
45912489 131.08 CAAG C PASS 0/1 35 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CDSN

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 allfamilies AWM 6 rs34182778,rs57244323
dbSNP Clinvar
31084942 471.34 GCTT G PASS 0/1 161 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18750 0.18750 0.22354 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%

CEP152

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 allfamilies AWM 15 rs754324885
dbSNP Clinvar
49031202 92.84 AT... A PASS 0/1 82 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CEP152|0.092828159|52.66%

CLCA4

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 allfamilies AWM 1 rs4001061,rs77067122
dbSNP Clinvar
87045896 796.683 TC... T PASS 1/1 57 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.70707 0.70710 None None None None None None CLCA4|0.011259868|79.82%
View allfamilies AWM 1 rs772880712
dbSNP Clinvar
87045895 50.0 AT... A PASS 0/1 114 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CLCA4|0.011259868|79.82%

CTSA

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 allfamilies AWM 20 . 44520237 278.619 CC... CC... PASS 1/1 33 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTSA|0.152533286|42.59%

DEFB132

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 allfamilies AWM 20 rs66489228,rs371825938
dbSNP Clinvar
238435 1698.54 CT... C PASS 1/1 136 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.39134 None None None None None None DEFB132|0.000181489|99.81%

DENND4B

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 allfamilies AWM 1 rs557071025
dbSNP Clinvar
153907297 50.0 CT... C PASS 0/1 232 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.21965 0.21960 None None None None None None DENND4B|0.160276064|41.5%

FAM174B

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 allfamilies AWM 15 rs68056278,rs66488707
dbSNP Clinvar
93198678 173.76 TT... T PASS 0/1 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.97524 0.97520 0.06364 None None None None None None FAM174B|0.003989982|87.05%

FNDC1

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 allfamilies AWM 6 rs141435210,rs3842694
dbSNP Clinvar
159660779 316.24 GC... G PASS 1/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.49641 0.49640 0.19309 None None None None None None FNDC1|0.018012645|75.28%

GFM2

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 allfamilies AWM 5 rs5868753
dbSNP Clinvar
74021846 1610.19 TA... T PASS 0/1 129 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.38239 0.38240 None None None None None None GFM2|0.246688684|31.86%

GIGYF2

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 allfamilies AWM 2 rs10555297
dbSNP Clinvar
233712226 401.22 CACA C PASS 0/1 125 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.55911 0.55910 None None None None None None GIGYF2|0.544298923|14.01%

HAVCR1

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 allfamilies AWM 5 rs45439103,rs398065342
dbSNP Clinvar
156479443 265.75 CTTG C PASS 0/1 165 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24381 0.24380 0.24190 None None None None None None HAVCR1|0.00064813|97.55%

HOMEZ

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 allfamilies AWM 14 rs148005528,rs762263819
dbSNP Clinvar
23744800 99.0 ACAT A PASS 0/1 45 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HOMEZ|0.294311356|28.1%

IRF5

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 allfamilies AWM 7 rs199508964,rs60344245
dbSNP Clinvar
128587351 59.159 CA... C PASS 0/1 75 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%

IST1

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 allfamilies AWM 16 rs549750934,rs372825060
dbSNP Clinvar
71956511 1255.11 AA... A PASS 1/1 151 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03574 0.27960 None None None None None None IST1|0.589563017|12.15%

ITPKB

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 allfamilies AWM 1 rs147889095
dbSNP Clinvar
226924875 1334.72 AC... A PASS 0/1 211 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.28195 0.28190 0.20633 None None None None None None ITPKB|0.025486476|71.57%

KCNA7

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 allfamilies AWM 19 rs10535426,rs375428032
dbSNP Clinvar
49573362 472.623 TGGA T PASS 0/1 161 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14477 0.14480 0.14909 None None None None None None KCNA7|0.090421752|53.13%

KLRF1

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 allfamilies AWM 12 rs33911869,rs60498737,rs543781017
dbSNP Clinvar
9994445 1129.34 GTGT G PASS 1/1 76 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.99421 0.99420 None None None None None None KLRF1|0.004177647|86.78%

KRTAP10-10

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 allfamilies AWM 21 . 46057612 1112.09 CC... CC... PASS 1/1 124 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%

KRTAP1-1

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 allfamilies AWM 17 . 39197476 50.0 AG... A PASS 0/1 133 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None KRTAP1-1|0.015451113|76.85%

LRRC49

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 allfamilies AWM 15 rs3834543,rs56720495
dbSNP Clinvar
71276480 946.416 GCAA G PASS 0/1 95 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.43590 0.43590 0.40853 None None None None None None LRRC49|0.109207588|49.35%

MUC5B

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 allfamilies AWM 11 rs199629887,rs61430934
dbSNP Clinvar
1271218 836.07 GCCA G PASS 0/1 284 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.06550 0.06550 0.05442 None None None None None None MUC5B|0.001251586|94.15%

NCOA3

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 allfamilies AWM 20 . 46279814 1958.12 TG... TG... PASS 1/2 139 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None NCOA3|0.49257506|16.22%

NPVF

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 allfamilies AWM 7 rs3216928
dbSNP Clinvar
25266569 107.31 TTAA T PASS 0/1 123 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14637 0.14640 0.13931 None None None None None None NPVF|0.025236531|71.69%

NRD1

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 allfamilies AWM 1 rs35723519,rs60220085
dbSNP Clinvar
52306063 808.506 ATCT A PASS 0/1 78 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.56170 0.56170 None None None None None None NRD1|0.347431111|24.32%

NUMBL

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 allfamilies AWM 19 rs781582699
dbSNP Clinvar
41173865 50.0 TT... T PASS 0/1 128 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None NUMBL|0.139631884|44.46%

OR14A16

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 allfamilies AWM 1 rs35979231,rs375198428
dbSNP Clinvar
247978541 1307.3 AAGG A PASS 1/1 105 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.72065 0.72060 0.31590 None None None None None None OR14A16|0.000324308|99.33%

OR2A14

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 allfamilies AWM 7 rs66549240,rs34602346
dbSNP Clinvar
143826729 1863.3 ACTT A PASS 1/1 91 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.57847 0.57850 0.49941 None None None None None None OR2A14|0.009019634|81.65%

OR5H6

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 allfamilies AWM 3 rs74203917,rs398062605
dbSNP Clinvar
97983487 3315.27 TT... T PASS 0/1 275 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31709 0.31710 0.43239 None None None None None None OR5H6|0.001976143|91.06%

PASD1

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 allfamilies AWM X rs764610027
dbSNP Clinvar
150840686 82.16 AG... A PASS 0/1 147 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00795 0.00795 0.01124 None None None None None None PASD1|0.000158076|99.84%

POLI

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 allfamilies AWM 18 rs10584411,rs763063557,rs3729509
dbSNP Clinvar
51795957 1432.86 GCGA G PASS 1/1 162 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.78395 0.78390 0.23883 None None None None None None POLI|0.500737847|15.78%

POLQ

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 allfamilies AWM 3 rs756820326
dbSNP Clinvar
121230765 69.6 ACTT A PASS 0/1 38 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00887 None None None None None None POLQ|0.112771741|48.71%

PRSS16

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 allfamilies AWM 6 rs141138864,rs371606222
dbSNP Clinvar
27223064 1041.13 AA... A PASS 0/1 87 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.10204 0.10200 0.16243 None None None None None None PRSS16|0.01564206|76.67%

PRUNE2

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 allfamilies AWM 9 rs11267615,rs376038487
dbSNP Clinvar
79318375 1793.13 GG... G PASS 1/1 170 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.78435 0.78430 None None None None None None PRUNE2|0.26380863|30.4%

RIC8A

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 allfamilies AWM 11 rs3832797
dbSNP Clinvar
209894 511.18 ACCC A PASS 0/1 172 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.41394 0.41390 0.32010 None None None None None None RIC8A|0.023059268|72.67%

RIN3

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 allfamilies AWM 14 rs71698059,rs68153141,rs570458246
dbSNP Clinvar
93154537 219.86 TGGC T PASS 0/1 30 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.29220 None None None None None None RIN3|0.02491419|71.85%

SIRPA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 20 rs139878822
dbSNP Clinvar
1896051 2114.33 CCGA C PASS 0/1 263 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.38938 0.38940 0.30653 None None None None None None SIRPA|0.085510407|54.05%

SLC22A1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 6 rs202220802,rs771338559,rs72552763
dbSNP Clinvar
160560880 1588.05 CATG C PASS 0/1 179 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.11821 0.11820 None None None None None None SLC22A1|0.017246793|75.71%

SMARCA2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 9 rs113070757
dbSNP Clinvar
2039776 171.27 ACAG A PASS 0/1 33 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None SMARCA2|0.973609555|1.61%

SPATA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs72362780
dbSNP Clinvar
231861032 1641.38 TC... T,... PASS 1/2 138 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.46734 None None None None None None SPATA3|0.001696928|91.9%

TMEM121

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 14 rs10569304
dbSNP Clinvar
105996049 537.52 TGCC T PASS 0/1 66 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00160 0.41070 0.38963 None None None None None None TMEM121|0.07505457|56.29%

TMEM52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 1 rs575852588
dbSNP Clinvar
1850627 576.28 CA... C PASS 0/1 68 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.35903 0.35900 0.28098 None None None None None None TMEM52|0.00312833|88.44%

TRIM52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs33972170,rs200454506,rs3073543
dbSNP Clinvar
180687428 3069.34 CTCT C PASS 0/1 132 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.49161 0.49160 None None None None None None TRIM52|0.003462758|87.82%

TRIOBP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 22 rs55745992
dbSNP Clinvar
38119754 405.038 TCAA T PASS 0/1 113 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.33626 0.33630 0.35319 None None None None None None TRIOBP|0.083019472|54.57%

URI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 19 rs3840928,rs556897562,rs398059661
dbSNP Clinvar
30500118 1682.65 GTGA G PASS 1/1 60 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.75620 None None None None None None URI1|0.584128521|12.4%

VEGFC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 4 rs5864401,rs3062984,rs397710947
dbSNP Clinvar
177605081 387.92 CTCA C PASS 1/1 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.99701 0.99700 0.00436 None None None None None None VEGFC|0.797301973|5.92%

ZCCHC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 9 rs58050565,rs397759922
dbSNP Clinvar
88937851 795.88 ATTT A PASS 1/1 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.52396 0.52400 0.45375 None None None None None None ZCCHC6|0.096946217|51.74%

ZNF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs10578519,rs397802135
dbSNP Clinvar
95847040 1833.04 TGCG T PASS 0/1 205 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.99701 0.99700 0.00895 None None None None None None ZNF2|0.021724179|73.31%
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