| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC28A1_chr15_84879662_84950798 | 84918803 | GGAATCCT others(125): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(249): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0004a0001c0008others(36): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(51): Show | a0001c0002t0001g0005a0001c0002t0001g0025a0001c0002t0001g0060others(248): Show | 252 | 396 | 0.6364 | -132 | c.876 others(15): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SLC2A13_chr12_39750025_40111081 | 39895687 | TATGTATA others(125): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01928.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0078a0001c0001t0001g0079others(3): Show | 6 | 214 | 0.0280 | -132 | c.103 others(21): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
| SLC39A14_chr8_22362278_22427736 | 22396385 | TAGAGAGA others(125): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02165.hp1 HG02280.hp1 |
a0001a0003 | a0001c0003a0001c0004a0003c0001 | a0001c0003t0004a0001c0004t0001a0003c0001t0001 | a0001c0003t0004g0056a0001c0004t0001g0150a0003c0001t0001g0075 | 3 | 324 | 0.0093 | -132 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SLC9A3_chr5_465456_529449 | 497701 | ATCTGCCC others(125): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(61): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0051others(60): Show | 64 | 218 | 0.2936 | -132 | c.212 others(17): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 497715 | TGGGTGGG others(125): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 218 | 0.0046 | -132 | c.212 others(17): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLCO3A1_chr15_91848708_92170903 | 92161799 | GTAGAACA others(125): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0040 | 1 | 190 | 0.0053 | -132 | c.175 others(17): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 246002522 | GTTAGCCA others(125): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01109.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0038a0001c0001t0001g0055a0001c0001t0001g0067others(14): Show | 17 | 150 | 0.1133 | -132 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1317096 | AGGCCAGC others(125): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0108 | 1 | 190 | 0.0053 | -132 | c.148 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX16_chr8_81794583_81847185 | 81842452 | GGGCAAGA others(125): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 306 | 0.0033 | -132 | c.-55 others(9): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 268 | chr8 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7453329 | TGTGTTGG others(125): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0010 | a0001c0010t0076 | a0001c0010t0076g0163 | 1 | 168 | 0.0060 | -132 | c.548 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPINK4_chr9_33235167_33253567 | 33251886 | GAGAAGGG others(125): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01243.hp2 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0045a0002c0002t0002g0003others(5): Show | 12 | 378 | 0.0318 | -132 | c.*34 others(11): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 3320 | chr9 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89834092 | GCGGTTGG others(125): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0009 | 1 | 356 | 0.0028 | -132 | c.244 others(17): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SPIRE2_chr16_89823475_89876319 | 89835016 | GCGGTTGG others(125): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0317 | 1 | 356 | 0.0028 | -132 | c.244 others(17): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SPIRE2_chr16_89823475_89876319 | 89848878 | CGGCGTTT others(125): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(29): Show |
a0001a0002a0005others(3): Show | a0001c0019a0002c0002a0005c0007others(4): Show | a0001c0019t0001a0002c0002t0002a0002c0002t0014others(5): Show | a0001c0019t0001g0317a0002c0002t0002g0022a0002c0002t0002g0023others(29): Show | 32 | 356 | 0.0899 | -132 | c.289 others(17): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| STARD13_chr13_33098137_33290755 | 33177854 | GAAGGAAG others(125): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0002g0117others(10): Show | 13 | 302 | 0.0431 | -132 | c.170 others(19): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | ||||||
| STARD13_chr13_33098137_33290755 | 33177879 | GAAGGAAG others(125): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0005 | a0001c0004t0002g0011a0001c0005t0005g0162 | 2 | 302 | 0.0066 | -132 | c.170 others(19): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | ||||||
| STX16_chr20_58646283_58684526 | 58648334 | CGTGCTGC others(125): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0003 | 1 | 384 | 0.0026 | -132 | c.-36 others(11): Show |
STX16 | ENSG00000124222.23 | transcript | ENST00000371141.8 | protein_coding | 2948 | chr20 | TogoVar | ||||||
| TAF13_chr1_109059140_109081003 | 109071957 | AATATATA others(125): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG03225.hp1 NA18522.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0028a0001c0001t0002g0057a0001c0001t0003g0101others(3): Show | 8 | 414 | 0.0193 | -132 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| TBC1D22A_chr22_46757650_47180693 | 47144671 | CGGGTGCA others(125): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0051others(16): Show | 19 | 112 | 0.1696 | -132 | c.142 others(21): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82843367 | GTCCAGCT others(125): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG03195.hp2 |
a0002a0019 | a0002c0006a0019c0038 | a0002c0006t0005a0019c0038t0005 | a0002c0006t0005g0108a0002c0006t0005g0112a0019c0038t0005g0120 | 3 | 318 | 0.0094 | -132 | c.131 others(21): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82856705 | GGGTGCGC others(125): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0009a0002c0007 | a0001c0009t0008a0002c0007t0005a0002c0007t0023 | a0001c0009t0008g0086a0001c0009t0008g0093a0001c0009t0008g0095others(3): Show | 6 | 318 | 0.0189 | -132 | c.131 others(21): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82856795 | CTGCGCAT others(125): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0306 | 1 | 318 | 0.0031 | -132 | c.131 others(21): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TEX19_chr17_82354247_82368775 | 82360560 | TCAAGTTT others(125): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 380 | 0.0026 | -132 | c.-27 others(19): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TFB1M_chr6_155251134_155319484 | 155305177 | TATATATT others(125): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0178 | 1 | 348 | 0.0029 | -132 | c.285 others(17): Show |
TFB1M | ENSG00000029639.11 | transcript | ENST00000367166.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
| THSD7B_chr2_136760545_137682718 | 137546350 | CATATATA others(125): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0040 | a0003c0040t0011 | a0003c0040t0011g0080 | 1 | 98 | 0.0102 | -132 | c.313 others(21): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMC4_chr19_54155108_54178160 | 54175973 | GTGGCCTA others(125): Show |
G | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0337a0002c0002t0002g0338 | 2 | 407 | 0.0049 | -132 | c.-29 others(11): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2814 | chr19 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125204411 | CATCTCAT others(125): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0082 | 1 | 128 | 0.0078 | -132 | c.67+ others(17): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM132B_chr12_125181386_125667369 | 125204500 | AGGCTCCG others(125): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0053 | 1 | 128 | 0.0078 | -132 | c.67+ others(17): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM144_chr4_158205486_158260416 | 158257032 | ATTATATA others(125): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 274 | 0.0037 | -132 | c.*35 others(11): Show |
TMEM144 | ENSG00000164124.11 | transcript | ENST00000296529.11 | protein_coding | 1617 | chr4 | TogoVar | ||||||
| TMEM63C_chr14_77176798_77264495 | 77221279 | CCTCCCAC others(125): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0012 | a0001c0012t0012 | a0001c0012t0012g0262 | 1 | 322 | 0.0031 | -132 | c.312 others(17): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1417325 | ATCCCAAC others(125): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(25): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0015a0003c0006others(11): Show | a0001c0004t0001a0001c0004t0009a0002c0015t0003others(14): Show | a0001c0004t0001g0086a0001c0004t0001g0087a0001c0004t0001g0091others(24): Show | 28 | 130 | 0.2154 | -132 | c.94+ others(15): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1545030 | CTATCTAT others(125): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00733.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0007a0001c0001t0010a0002c0002t0007others(3): Show | a0001c0001t0007g0013a0001c0001t0010g0054a0002c0002t0007g0121others(3): Show | 6 | 130 | 0.0462 | -132 | c.*25 others(11): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 1358 | chr2 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 897345 | TCATTCAG others(125): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02896.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0013a0001c0001t0002g0059a0001c0005t0002g0213others(1): Show | 4 | 402 | 0.0100 | -132 | c.388 others(15): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897348 | TTCAGTGT others(125): Show |
T | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 402 | 0.0025 | -132 | c.388 others(15): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897741 | TCAGTCAG others(125): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 402 | 0.0025 | -132 | c.388 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 898995 | GCAGTCAG others(125): Show |
G | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 402 | 0.0025 | -132 | c.389 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 899325 | TCAGTCAG others(125): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 402 | 0.0025 | -132 | c.389 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 899589 | TCAGTCAG others(125): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 402 | 0.0025 | -132 | c.389 others(15): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRPV5_chr7_142903101_142938746 | 142903858 | AGTCAAGA others(125): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 253 | 0.0040 | -132 | c.*45 others(11): Show |
TRPV5 | ENSG00000127412.7 | transcript | ENST00000265310.6 | protein_coding | 4242 | chr7 | TogoVar | ||||||
| TSPAN32_chr11_2297013_2323204 | 2308429 | CCCGCAGT others(125): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0187 | 2 | 412 | 0.0049 | -132 | c.280 others(15): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TTLL8_chr22_50013575_50063298 | 50028718 | CACCCTCG others(125): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0028 | a0005c0028t0002 | a0005c0028t0002g0194 | 1 | 224 | 0.0045 | -132 | c.225 others(19): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50028754 | CCCCCACA others(125): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0062 | 1 | 224 | 0.0045 | -132 | c.225 others(19): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50043407 | GTAGATGG others(125): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0023 | 1 | 224 | 0.0045 | -132 | c.751 others(17): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 8/13 | chr22 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133292298 | CCCGTGTC others(125): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 284 | 0.0035 | -132 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1248971 | GCGAGGGA others(125): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG01516.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0084a0001c0001t0004g0119a0001c0001t0004g0167others(15): Show | 18 | 324 | 0.0556 | -132 | c.*61 others(11): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4940 | chr1 | TogoVar | ||||||
| UNC5A_chr5_176805559_176885898 | 176872276 | CTCGCCCA others(125): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG02027.hp2 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0028others(9): Show | 12 | 268 | 0.0448 | -132 | c.887 others(17): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
| UVSSA_chr4_1342208_1393049 | 1372729 | AGCACTCA others(125): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(56): Show |
a0001a0003a0005others(3): Show | a0001c0003a0001c0005a0003c0013others(4): Show | a0001c0003t0032a0001c0005t0003a0001c0005t0017others(11): Show | a0001c0003t0032g0303a0001c0005t0003g0025a0001c0005t0003g0026others(50): Show | 59 | 400 | 0.1475 | -132 | c.128 others(19): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169117 | TCTCCCTC others(125): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0047 | 1 | 115 | 0.0087 | -132 | c.*78 others(9): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 826 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467253 | GAGGAAGA others(125): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0015 | a0015c0015 | a0015c0015t0006 | a0015c0015t0006g0009 | 1 | 271 | 0.0037 | -132 | c.*87 others(10): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 744 | chrX | TogoVar | ||||||
| WDR27_chr6_169452212_169707029 | 169662655 | ATGCACCG others(125): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(119): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0010a0001c0037others(22): Show | a0001c0001t0001a0001c0010t0008a0001c0037t0001others(28): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(119): Show | 122 | 294 | 0.4150 | -132 | c.905 others(15): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 8/25 | chr6 | TogoVar |