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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
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Genes at Omim

ERCC6L2, HIBCH, MTTP, SCAPER,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
MTTP {Metabolic syndrome, protection against}, 605552 (3)
Abetalipoproteinemia, 200100 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ERCC6L2, HIBCH, MTTP,
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
MTTP Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 15

Export to: CSV
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ABI3BP

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3732895
dbSNP Clinvar
100712249 1978.77 T C PASS 0/1 154 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 1.95 None None None None None None ABI3BP|0.072954425|56.79%

AC110781.3

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 62388010_s7 mvar 62388010_S7.FREEBAYES 7 rs3889573
dbSNP Clinvar
1878377 1506.77 A G PASS 0/1 108 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

ERCC6L2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 9 rs690528
dbSNP Clinvar
98638288 776.77 A G PASS 0/1 64 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.00 -3.30 None None None None None None ERCC6L2|0.051614036|62.16%

FAM188B

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 62388010_s7 mvar 62388010_S7.FREEBAYES 7 rs10216063
dbSNP Clinvar
30915263 1238.77 A G PASS 0/1 103 START_LOST HIGH None 0.45967 0.45970 0.31216 1.00 0.00 0.56 None None None None None None FAM188B|0.025227559|71.7%,AQP1|0.308533326|26.95%

HAS1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 19 rs56166910
dbSNP Clinvar
52223180 1168.77 A G PASS 0/1 88 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.00 0.34 None None None None None None HAS1|0.18273667|38.7%

HIBCH

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 62388010_s7 mvar 62388010_S7.FREEBAYES 2 rs291466
dbSNP Clinvar
191184475 1075.77 A G PASS 0/1 101 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.02 1.84 None None None None None None HIBCH|0.096813865|51.74%

KCNJ16

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 62388010_s7 mvar 62388010_S7.FREEBAYES 17 rs7224070
dbSNP Clinvar
68093044 870.77 A G PASS 1/1 23 START_LOST HIGH None 0.83107 0.83110 0.00 -1.84 None None None None None None KCNJ16|0.085500733|54.06%

KRTAP9-1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 17 rs61743546
dbSNP Clinvar
39346139 387.77 A G PASS 0/1 30 START_LOST HIGH None 0.14357 0.14360 0.60 0.00 1.24 None None None None None None KRTAP9-1|0.001839367|91.43%

LENG9

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 62388010_s7 mvar 62388010_S7.FREEBAYES 19 rs1981829
dbSNP Clinvar
54974774 278.77 A T PASS 0/1 29 START_LOST HIGH None 0.59365 0.59370 0.02 0.00 None None None None None None LENG9|0.000334699|99.27%

MTTP

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 62388010_s7 mvar 62388010_S7.FREEBAYES 4 rs11944752
dbSNP Clinvar
100485255 1423.77 G A PASS 0/1 89 START_LOST HIGH None 0.25000 0.25000 0.00 0.44 None None None None None None MTTP|0.164689629|40.96%

OR8K1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 11 rs1905055
dbSNP Clinvar
56113516 202.77 T C PASS 0/1 21 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.01 0.06 None None None None None None OR8K1|0.005619396|85.08%

SCAPER

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 62388010_s7 mvar 62388010_S7.FREEBAYES 15 rs3812908
dbSNP Clinvar
77176158 422.77 T C PASS 1/1 11 START_LOST HIGH None 0.41773 0.41770 0.29627 0.15 0.00 1.25 None None None None None None SCAPER|0.365657343|23.01%

TMPRSS11A

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 62388010_s7 mvar 62388010_S7.FREEBAYES 4 rs977728
dbSNP Clinvar
68829109 544.77 C T PASS 0/1 29 START_LOST HIGH None 0.20328 0.20330 0.15501 0.09 0.05 -1.29 None None None None None None TMPRSS11A|0.035872447|67.18%

UNC50

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 62388010_s7 mvar 62388010_S7.FREEBAYES 2 rs1062847
dbSNP Clinvar
99226173 978.77 T A PASS 0/1 73 START_LOST HIGH None 0.28574 0.28570 0.26249 0.00 0.00 0.85 None None None None None None UNC50|0.109273755|49.33%

ZNF211

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 62388010_s7 mvar 62388010_S7.FREEBAYES 19 rs9749449
dbSNP Clinvar
58144715 681.77 A G PASS 0/1 73 START_LOST HIGH None 0.21446 0.21450 0.15526 1.00 0.00 -2.17 None None None None None None ZNF211|0.001054755|95.15%
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