| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLGAP2_chr8_732628_1713476 | 1024243 | C | CCCCGTGC others(543): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0003t0013a0001c0011t0015 | a0001c0003t0001g0027a0001c0003t0013g0007a0001c0011t0015g0002 | 3 | 40 | 0.0750 | 550 | c.73+ others(569): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1024472 | G | GAGGCAGA others(543): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 40 | 0.0250 | 550 | c.73+ others(569): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(543): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 212 | 0.0047 | 550 | c.316 others(569): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 676019 | A | ACGCGGCG others(543): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0321 | 1 | 378 | 0.0027 | 550 | c.305 others(567): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 676211 | A | ACGCGGCG others(543): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0320 | 1 | 378 | 0.0027 | 550 | c.305 others(567): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(543): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0007a0001c0020t0001 | a0001c0001t0007g0150a0001c0020t0001g0200 | 2 | 272 | 0.0074 | 550 | c.238 others(571): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 601974 | A | ACACATTC others(543): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 272 | 0.0037 | 550 | c.743 others(567): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| FBRSL1_chr12_132485151_132590188 | 132547131 | A | AGCTCTGC others(543): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18612.hp2 |
a0004 | a0004c0013 | a0004c0013t0005 | a0004c0013t0005g0317a0004c0013t0005g0327 | 2 | 348 | 0.0058 | 550 | c.616 others(565): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FHIT_chr3_59742277_61256452 | 59986789 | T | TATTTATA others(543): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040 | 1 | 46 | 0.0217 | 550 | c.279 others(569): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435248 | A | AAGGAAGG others(543): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0043 | 1 | 96 | 0.0104 | 550 | c.-16 others(571): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(543): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0202 | 1 | 330 | 0.0030 | 550 | c.-10 others(567): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46635509 | C | CTCCCTGC others(543): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 328 | 0.0031 | 550 | c.163 others(567): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GRAMD4_chr22_46615386_46684785 | 46635509 | C | CTCCCTGC others(543): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104a0001c0001t0003g0169 | 2 | 328 | 0.0061 | 550 | c.163 others(567): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GRM4_chr6_34013643_34151087 | 34035559 | T | TGAAAGAA others(543): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18940.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0024a0001c0002t0008g0040a0001c0002t0008g0042others(1): Show | 4 | 282 | 0.0142 | 550 | c.244 others(567): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGCG others(543): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 260 | 0.0039 | 550 | c.717 others(567): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRPAP1_chr4_3498612_3537422 | 3509283 | T | TTGAGACG others(543): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0177 | a0001c0001t0177g0119 | 1 | 420 | 0.0024 | 550 | c.*36 others(561): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 3690 | chr4 | TogoVar | |||||
| LRRC36_chr16_67321815_67390204 | 67341007 | G | GTATTCTA others(543): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01433.hp2 HG01934.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0012 | a0001c0001t0001a0001c0007t0001a0004c0012t0001 | a0001c0001t0001g0082a0001c0001t0001g0100a0001c0001t0001g0145others(2): Show | 5 | 194 | 0.0258 | 550 | c.71- others(563): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(543): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 550 | c.-28 others(561): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(543): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 350 | 0.0029 | 550 | c.-28 others(561): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8678099 | A | ATCCGTTC others(543): Show |
3_prime_UTR_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0003 | a0003c0003t0071 | a0003c0003t0071g0331 | 1 | 366 | 0.0027 | 550 | c.*46 others(559): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 468 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(543): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075a0001c0002t0001g0076a0001c0002t0001g0214 | 3 | 244 | 0.0123 | 550 | c.342 others(569): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(543): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0084 | 1 | 386 | 0.0026 | 550 | c.*92 others(561): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(543): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0081 | 1 | 386 | 0.0026 | 550 | c.*92 others(561): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(543): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02273.hp1 others(27): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0002a0001c0004t0019a0001c0004t0056others(4): Show | a0001c0004t0002g0006a0001c0004t0002g0019a0001c0004t0002g0020others(27): Show | 30 | 386 | 0.0777 | 550 | c.*92 others(561): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| ODF3_chr11_191761_205258 | 194850 | A | ACACTCGG others(543): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 388 | 0.0026 | 550 | c.-22 others(561): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 1910 | chr11 | TogoVar | ||||||
| OR6J1_chr14_22625929_22649352 | 22637550 | C | CCTGCCCG others(543): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0245 | 1 | 362 | 0.0028 | 550 | c.-27 others(567): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101312088 | C | CCCCCCAC others(543): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0060 | 1 | 336 | 0.0030 | 550 | c.269 others(569): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
| PDCD1_chr2_241844884_241863894 | 241848563 | C | CGCTGCGC others(543): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 407 | 0.0025 | 550 | c.*24 others(561): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1320 | chr2 | TogoVar | ||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(543): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0002g0016a0001c0001t0002g0112 | 3 | 262 | 0.0115 | 550 | c.129 others(567): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(543): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068a0001c0001t0003g0248a0001c0001t0003g0250 | 3 | 262 | 0.0115 | 550 | c.129 others(567): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(543): Show |
intron_variant | MODIFIER | HG00642.hp2 HG04184.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0258a0001c0003t0002g0145 | 2 | 262 | 0.0076 | 550 | c.129 others(567): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88713084 | C | CCTGAGAG others(543): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0261 | 1 | 282 | 0.0036 | 550 | c.*25 others(561): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2253 | chr16 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50405719 | G | GAGGCCTG others(543): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0008others(1): Show | a0001c0001t0002g0082a0001c0003t0002g0081a0001c0003t0002g0084others(5): Show | 8 | 340 | 0.0235 | 550 | c.228 others(565): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2106663 | T | TGTCACCA others(543): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 286 | 0.0035 | 550 | c.335 others(569): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1719963 | A | AGAGGGAG others(543): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0009 | a0002c0009t0011 | a0002c0009t0011g0301 | 1 | 322 | 0.0031 | 550 | c.200 others(569): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 467592 | C | CTCAGGGA others(543): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0285 | 1 | 295 | 0.0034 | 550 | c.809 others(567): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92547124 | A | ATTATAAA others(543): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 334 | 0.0030 | 550 | c.45- others(565): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(543): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0033 | a0033c0143 | a0033c0143t0013 | a0033c0143t0013g0177 | 1 | 292 | 0.0034 | 550 | c.261 others(567): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 305078 | G | GGGGGACA others(543): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 133 | 0.0075 | 550 | c.351 others(569): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80864276 | C | CGGCAGGT others(543): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0083 | a0001c0083t0028 | a0001c0083t0028g0158 | 1 | 196 | 0.0051 | 550 | c.150 others(569): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SCGB1C1_chr11_188078_199575 | 194850 | A | ACACTCGG others(543): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0001 | 1 | 354 | 0.0028 | 550 | c.*40 others(559): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 276 | chr11 | TogoVar | ||||||
| SCTR_chr2_119434843_119529483 | 119444820 | T | TATATACA others(543): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0155 | 1 | 290 | 0.0035 | 550 | c.114 others(569): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(543): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0033 | 1 | 150 | 0.0067 | 550 | c.77- others(567): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(543): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0119 | 1 | 158 | 0.0063 | 550 | c.22+ others(567): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50678865 | G | GATGGGGA others(543): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0243 | 1 | 316 | 0.0032 | 550 | c.257 others(569): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168746882 | T | TGTGTGGT others(543): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03098.hp2 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0004a0001c0051a0003c0055 | a0001c0004t0006a0001c0004t0010a0001c0051t0012others(1): Show | a0001c0004t0006g0060a0001c0004t0010g0131a0001c0051t0012g0005others(1): Show | 4 | 132 | 0.0303 | 550 | c.227 others(569): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(543): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 302 | 0.0033 | 550 | c.12+ others(565): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(543): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02723.hp1 others(3): Show |
a0005a0006 | a0005c0006a0006c0008 | a0005c0006t0001a0006c0008t0001 | a0005c0006t0001g0104a0005c0006t0001g0106a0006c0008t0001g0025others(3): Show | 6 | 268 | 0.0224 | 550 | c.291 others(569): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768606 | G | GGAGGGAG others(543): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0122 | a0002c0122t0001 | a0002c0122t0001g0228 | 1 | 256 | 0.0039 | 550 | c.*22 others(561): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1888 | chr12 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768606 | G | GGAGGGAG others(543): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02015.hp1 HG02572.hp1 others(11): Show |
a0001a0002a0009others(4): Show | a0001c0036a0001c0093a0001c0106others(10): Show | a0001c0036t0001a0001c0093t0001a0001c0106t0001others(10): Show | a0001c0036t0001g0093a0001c0036t0001g0145a0001c0093t0001g0227others(11): Show | 14 | 256 | 0.0547 | 550 | c.*22 others(561): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1888 | chr12 | TogoVar |