view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1634): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0011a0024 | a0011c0016a0024c0034 | a0011c0016t0001a0024c0034t0001 | a0011c0016t0001g0025 a0024c0034t0001g0137 |
2 | 168 | 0.0119 | 1641 | c.338 others(1660): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATATTA others(1634): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 1 | 402 | 0.0025 | 1641 | c.292 others(1660): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1634): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 402 | 0.0025 | 1641 | c.292 others(1660): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1634): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0037 | 1 | 334 | 0.0030 | 1641 | c.114 others(1660): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101830 | A | ATAGGGGA others(1634): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0144 | 1 | 210 | 0.0048 | 1641 | c.45+ others(1656): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1634): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0207 | 1 | 334 | 0.0030 | 1641 | c.45- others(1656): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1634): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 134 | 0.0075 | 1641 | c.-28 others(1660): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1634): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 322 | 0.0031 | 1641 | c.-93 others(1658): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1634): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | 322 | 0.0062 | 1641 | c.-93 others(1658): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1634): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 322 | 0.0031 | 1641 | c.-93 others(1658): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACATCA others(1634): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 392 | 0.0026 | 1641 | c.228 others(1660): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1635): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0055 | 1 | 58 | 0.0172 | 1642 | c.510 others(1661): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1635): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 58 | 0.0172 | 1642 | c.510 others(1661): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1635): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 276 | 0.0036 | 1642 | c.*52 others(1653): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1635): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 168 | 0.0060 | 1642 | c.338 others(1661): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1635): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0021 | a0021c0041 | a0021c0041t0001 | a0021c0041t0001g0140 | 1 | 168 | 0.0060 | 1642 | c.338 others(1661): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1635): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA19057.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 456 | 0.0066 | 1642 | c.*31 others(1653): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1635): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0157 | 1 | 334 | 0.0030 | 1642 | c.114 others(1661): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1635): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0249 | 1 | 376 | 0.0027 | 1642 | c.141 others(1659): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1635): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0004 | 1 | 376 | 0.0027 | 1642 | c.141 others(1659): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376683 | T | TCCCCCTC others(1635): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0024 | a0024c0019 | a0024c0019t0002 | a0024c0019t0002g0014 | 1 | 370 | 0.0027 | 1642 | c.-71 others(1651): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 658 | chr19 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1635): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 246 | 0.0041 | 1642 | c.-10 others(1659): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGAT others(1636): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0261 a0013c0022t0001g0262 |
2 | 344 | 0.0058 | 1643 | c.373 others(1660): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGAT others(1636): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0170 | 1 | 344 | 0.0029 | 1643 | c.373 others(1660): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(1636): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0222 | 1 | 236 | 0.0042 | 1643 | c.294 others(1660): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1636): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 298 | 0.0034 | 1643 | c.126 others(1660): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGAT others(1636): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0074 | 1 | 397 | 0.0025 | 1643 | c.*51 others(1654): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGAT others(1636): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0073 | 1 | 397 | 0.0025 | 1643 | c.*51 others(1654): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(1636): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 323 | 0.0031 | 1643 | c.-19 others(1654): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1636): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 270 | 0.0037 | 1643 | c.104 others(1662): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876838 | G | GGGAGGTT others(1636): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 274 | 0.0037 | 1643 | c.224 others(1662): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408572 | A | AGCATTTG others(1636): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 266 | 0.0038 | 1643 | c.*14 others(1654): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 553 | chr1 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1636): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0009 | a0009c0015 | a0009c0015t0022 | a0009c0015t0022g0157 | 1 | 302 | 0.0033 | 1643 | c.*39 others(1654): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1636): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0008a0001c0004t0008a0001c0006t0008 | a0001c0002t0008g0212 a0001c0004t0008g0300 a0001c0006t0008g0027 |
3 | 334 | 0.0090 | 1643 | c.114 others(1662): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1636): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0227 a0001c0002t0004g0166 a0001c0002t0004g0167 others(3): Show |
6 | 334 | 0.0180 | 1643 | c.114 others(1662): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1636): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0004a0001c0004t0004a0001c0006t0004 | a0001c0002t0004g0178 a0001c0002t0004g0297 a0001c0002t0004g0298 others(5): Show |
8 | 334 | 0.0240 | 1643 | c.114 others(1662): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1636): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0036 | 1 | 304 | 0.0033 | 1643 | c.347 others(1658): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628776 | A | ATGAGGCG others(1636): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0014 | a0004c0014t0013 | a0004c0014t0013g0288 | 1 | 352 | 0.0028 | 1643 | c.299 others(1660): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1636): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0309 | 1 | 340 | 0.0029 | 1643 | c.-27 others(1652): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1186057 | G | GGTCGGCG others(1637): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0045 | 1 | 338 | 0.0030 | 1644 | c.300 others(1661): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1637): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0042 | 1 | 58 | 0.0172 | 1644 | c.510 others(1663): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(1637): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01361.hp2 others(20): Show |
a0001 | a0001c0003a0001c0015a0001c0017 | a0001c0003t0003a0001c0015t0003a0001c0017t0003 | a0001c0003t0003g0002 a0001c0003t0003g0046 a0001c0003t0003g0047 others(20): Show |
23 | 326 | 0.0706 | 1644 | c.-33 others(1655): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1637): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0032 | 1 | 168 | 0.0060 | 1644 | c.338 others(1663): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1637): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 1644 | c.*69 others(1655): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1637): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0185 | 1 | 375 | 0.0027 | 1644 | c.-19 others(1655): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507458 | A | ATAGGGAG others(1637): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 260 | 0.0039 | 1644 | c.624 others(1661): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR5B3_chr11_58397464_58411874 | 58403448 | C | CAAAAAAG others(1637): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 386 | 0.0026 | 1644 | c.-26 others(1657): Show |
OR5B3 | ENSG00000172769.4 | transcript | ENST00000641865.1 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1637): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 367 | 0.0027 | 1644 | c.4-1 others(1657): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693462 | T | TTCACCAC others(1637): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0012 | 1 | 60 | 0.0167 | 1644 | c.299 others(1661): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1637): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG01993.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0022others(4): Show | a0001c0001t0003g0114 a0001c0001t0003g0129 a0001c0001t0003g0139 others(14): Show |
17 | 312 | 0.0545 | 1644 | c.*82 others(1655): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar |