regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(833): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 262 | 0.0038 | 840 | c.129 others(857): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(833): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 312 | 0.0032 | 840 | c.306 others(859): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113161882 | G | GTCCCCCC others(833): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 378 | 0.0027 | 840 | c.259 others(855): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113162008 | C | CTCCCCCC others(833): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 378 | 0.0027 | 840 | c.260 others(855): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113162428 | C | CTCCTCAC others(833): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 378 | 0.0027 | 840 | c.260 others(855): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(833): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 220 | 0.0046 | 840 | c.24+ others(857): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(833): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02602.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0005a0001c0003t0061a0001c0008t0004 | a0001c0003t0005g0173a0001c0003t0005g0224a0001c0003t0061g0065others(1): Show | 4 | 370 | 0.0108 | 840 | c.438 others(857): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392436 | C | CGTGTCCA others(833): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG01978.hp1 others(5): Show |
a0001a0002a0015 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0119a0001c0003t0001g0148a0001c0004t0001g0020others(5): Show | 8 | 180 | 0.0444 | 840 | c.*49 others(851): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3696 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924228 | C | CATACTCC others(833): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0159 | 1 | 276 | 0.0036 | 840 | c.58- others(857): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924228 | C | CATACTCC others(833): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 276 | 0.0036 | 840 | c.58- others(857): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0025 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0026 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078476 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4171 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078476 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4171 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078476 | G | GGCTGAGG others(833): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | 840 | c.-44 others(851): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4171 | chr1 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(833): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0084 | 1 | 160 | 0.0063 | 840 | c.389 others(861): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(833): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0047 | 1 | 160 | 0.0063 | 840 | c.389 others(861): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 273208 | T | TGACGTCA others(833): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 133 | 0.0075 | 840 | c.438 others(857): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273443 | A | AGAGACCC others(833): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 133 | 0.0075 | 840 | c.438 others(857): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934861 | G | GCGTTACA others(833): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 434 | 0.0023 | 840 | c.843 others(855): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934937 | G | GGGCGGCT others(833): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0255 | 1 | 434 | 0.0023 | 840 | c.843 others(855): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCGTGTCT others(833): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 290 | 0.0035 | 840 | c.166 others(857): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2354939 | T | TGGGGAAG others(833): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 2 | 422 | 0.0047 | 840 | c.134 others(857): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2354939 | T | TGGGGAAG others(833): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00733.hp2 others(70): Show |
a0001a0002a0015 | a0001c0001a0001c0024a0001c0034others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0024t0005others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0071a0001c0001t0001g0098others(60): Show | 73 | 422 | 0.1730 | 840 | c.134 others(857): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2354939 | T | TGGGGAAG others(833): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0346 | 1 | 422 | 0.0024 | 840 | c.134 others(857): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2354939 | T | TGGGGAAG others(833): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0046 | 1 | 422 | 0.0024 | 840 | c.134 others(857): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(833): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 300 | 0.0033 | 840 | c.626 others(857): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873407 | A | ATCCTATC others(833): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0348 | 1 | 362 | 0.0028 | 840 | c.757 others(857): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873417 | A | ATCCTATC others(833): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0112 | 1 | 362 | 0.0028 | 840 | c.757 others(857): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 245976473 | G | GGCCTAGG others(833): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0129 | 1 | 150 | 0.0067 | 840 | c.532 others(859): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852654 | G | GCATCCCA others(833): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 356 | 0.0028 | 840 | c.646 others(857): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290277 | G | GCACGTGA others(833): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04199.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0114a0001c0001t0001g0116 | 3 | 392 | 0.0077 | 840 | c.157 others(859): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290411 | C | CAGAGACA others(833): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0199 | 1 | 392 | 0.0026 | 840 | c.157 others(859): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(833): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 392 | 0.0026 | 840 | c.157 others(859): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376905 | G | GCCCCACC others(833): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 370 | 0.0027 | 840 | c.-93 others(849): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 880 | chr19 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115660 | G | GGCGAAGG others(833): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 444 | 0.0023 | 840 | c.227 others(859): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115681 | G | GGCGAAGG others(833): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0383 | 1 | 444 | 0.0023 | 840 | c.227 others(859): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(833): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0035a0001c0002t0009 | a0001c0001t0003g0020a0001c0001t0035g0079a0001c0002t0009g0060 | 3 | 80 | 0.0375 | 840 | c.497 others(861): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(833): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 114 | 0.0088 | 840 | c.-25 others(859): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287619 | G | GCCTCCCC others(833): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 348 | 0.0029 | 840 | c.519 others(857): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(833): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0010a0002c0003t0002g0011 | 2 | 238 | 0.0084 | 840 | c.392 others(857): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35373135 | C | CCCCTGTG others(833): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0015a0001c0007t0001g0181a0001c0007t0001g0182others(1): Show | 4 | 224 | 0.0179 | 840 | c.954 others(859): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(833): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 408 | 0.0025 | 840 | c.53+ others(855): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
ZNF517_chr8_144793913_144815084 | 144812336 | C | CTGGAAGC others(833): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 408 | 0.0025 | 840 | c.*39 others(851): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 2253 | chr8 | TogoVar | ||||||
ZNF721_chr4_434988_504156 | 441934 | C | CTTTGCCA others(833): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp1 | a0016 | a0016c0018 | a0016c0018t0004 | a0016c0018t0004g0189 | 1 | 324 | 0.0031 | 840 | c.169 others(849): Show |
p.Lys others(853): Show |
ZNF721 | ENSG00000182903.16 | transcript | ENST00000511833.3 | protein_coding | 3/3 | 2726/4673 | 2532/2772 | 844/923 | chr4 | TogoVar | ||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(834): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 249 | 0.0040 | 841 | c.49- others(856): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412913 | C | CGCCCCGC others(834): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0030 | a0009c0011t0030g0196 | 1 | 262 | 0.0038 | 841 | c.106 others(860): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251782 | A | AAGATGAA others(834): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 242 | 0.0041 | 841 | c.927 others(858): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(834): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18960.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0226a0001c0001t0002g0258a0001c0001t0004g0270 | 3 | 336 | 0.0089 | 841 | c.248 others(858): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |