| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B4GALNT3_chr12_454939_568509 | 511802 | T | TCTTCCAC others(485): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0018 | 1 | 308 | 0.0032 | 492 | c.170 others(511): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 511802 | T | TCTTCCAC others(485): Show |
intron_variant | MODIFIER | NA18993.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0059 | a0001c0001t0054g0019 a0001c0001t0059g0109 |
2 | 309 | 0.0065 | 492 | c.170 others(511): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 511802 | T | TCTTCCAC others(485): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0013 | a0013c0019 | a0013c0019t0002 | a0013c0019t0002g0185 a0013c0019t0002g0186 |
2 | 309 | 0.0065 | 492 | c.170 others(511): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(485): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0226 | 1 | 333 | 0.0030 | 492 | c.-22 others(509): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2539419 | C | CTTCATAA others(485): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 88 | 0.0114 | 492 | c.139 others(513): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(485): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02293.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0015 | a0001c0001t0014g0147 a0001c0002t0015g0050 |
2 | 10 | 0.2000 | 492 | c.565 others(509): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255224 | A | ATATATAT others(485): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268 | 1 | 315 | 0.0032 | 492 | c.907 others(507): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CCDC6_chr10_59783747_59911556 | 59882361 | G | GGAGAAGG others(485): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0004 | a0002c0004t0022 | a0002c0004t0022g0080 | 1 | 230 | 0.0043 | 492 | c.303 others(511): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
| CENPJ_chr13_24877279_24927861 | 24881852 | C | CTATATAG others(485): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 430 | 0.0023 | 492 | c.*13 others(503): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 426 | chr13 | TogoVar | |||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(485): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 8 | 0.1250 | 492 | c.*69 others(503): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
| COL4A3_chr2_227159624_227319792 | 227203378 | T | TGTGTATA others(485): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0331 | 1 | 314 | 0.0032 | 492 | c.88- others(509): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
| COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(485): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0192 | 1 | 21 | 0.0476 | 492 | c.510 others(511): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
| CPNE7_chr16_89570758_89602246 | 89588202 | A | ACCCACAG others(485): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 322 | 0.0031 | 492 | c.928 others(507): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89597875 | A | ACCCACCC others(485): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0319 a0001c0002t0009g0318 |
2 | 343 | 0.0058 | 492 | c.*12 others(503): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 630 | chr16 | TogoVar | |||||||
| CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(485): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01496.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0086 others(16): Show |
19 | 103 | 0.1845 | 492 | c.646 others(507): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(485): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0095 | 1 | 16 | 0.0625 | 492 | c.416 others(513): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(485): Show |
intron_variant | MODIFIER | HG02083.hp2 HG04228.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0015 a0001c0004t0001g0028 |
2 | 217 | 0.0092 | 492 | c.150 others(511): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
| DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(485): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03688.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0126 others(1): Show |
4 | 219 | 0.0183 | 492 | c.150 others(511): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
| DIDO1_chr20_62872743_62931505 | 62875266 | C | CCACCCCC others(485): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 a0002c0002t0001g0118 |
2 | 272 | 0.0074 | 492 | c.*39 others(503): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2476 | chr20 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(485): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 20 | 0.0500 | 492 | c.739 others(509): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 400674 | T | TCACCATC others(485): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0256 | 1 | 194 | 0.0052 | 492 | c.323 others(511): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DYNC2I1_chr7_158851558_158951189 | 158917065 | C | CATTAAGG others(485): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 167 | 0.0060 | 492 | c.179 others(511): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EFNA2_chr19_1280873_1306431 | 1282774 | A | AGGGGAAG others(485): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 291 | 0.0034 | 492 | c.-33 others(503): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3098 | chr19 | TogoVar | |||||||
| EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(485): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 345 | 0.0029 | 492 | c.*30 others(503): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | |||||||
| EGFL7_chr9_136657916_136677678 | 136675429 | C | CAGCAGGG others(485): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 2 | 178 | 0.0112 | 492 | c.*31 others(503): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2752 | chr9 | TogoVar | |||||||
| EGFL7_chr9_136657916_136677678 | 136675470 | C | CAGCAGGG others(485): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0005 | 2 | 390 | 0.0051 | 492 | c.*31 others(503): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2793 | chr9 | TogoVar | |||||||
| EML1_chr14_99788413_99947060 | 99927969 | G | GTGGTGGT others(485): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0179 | 1 | 242 | 0.0041 | 492 | c.190 others(511): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99927969 | G | GTGGTGGT others(485): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0184 | 1 | 242 | 0.0041 | 492 | c.190 others(511): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FAM174C_chr19_1270530_1284228 | 1282774 | A | AGGGGAAG others(485): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 252 | 0.0040 | 492 | c.*39 others(503): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3547 | chr19 | TogoVar | |||||||
| FBXO34_chr14_55266421_55358611 | 55332023 | T | TACACCAC others(485): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 209 | 0.0048 | 492 | c.-10 others(511): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60861204 | T | TATATATG others(485): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0038 | 1 | 23 | 0.0435 | 492 | c.-11 others(513): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(485): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 a0001c0001t0004g0157 |
2 | 151 | 0.0132 | 492 | c.114 others(511): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(485): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 150 | 0.0067 | 492 | c.114 others(511): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182738 | C | CACTATAT others(485): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02056.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0082 others(9): Show |
12 | 66 | 0.1818 | 492 | c.114 others(511): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241806347 | C | CCTCAGCC others(485): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 308 | 0.0032 | 492 | c.*21 others(503): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2061 | chr2 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241537 | C | CAGGGCCG others(485): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0047 | 1 | 142 | 0.0070 | 492 | c.107 others(511): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132242302 | C | CGGGGCCC others(485): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0098 | 1 | 157 | 0.0064 | 492 | c.107 others(511): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132244483 | C | CGGGGGCG others(485): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 64 | 0.0156 | 492 | c.107 others(511): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132244483 | C | CGGGGGCG others(485): Show |
intron_variant | MODIFIER | HG03041.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033 a0001c0002t0001g0079 |
2 | 65 | 0.0308 | 492 | c.107 others(511): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GAS6_chr13_113815549_113869076 | 113833639 | A | AGTGTGAC others(485): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0008 | 1 | 141 | 0.0071 | 492 | c.834 others(507): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 8/14 | chr13 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(485): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 70 | 0.0143 | 492 | c.-97 others(509): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(485): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0014others(1): Show | a0001c0002t0002g0060 a0001c0002t0002g0168 a0001c0002t0002g0173 others(8): Show |
11 | 80 | 0.1375 | 492 | c.-97 others(509): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(485): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 70 | 0.0143 | 492 | c.-97 others(509): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(485): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0218 | 1 | 122 | 0.0082 | 492 | c.283 others(509): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(485): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 122 | 0.0082 | 492 | c.283 others(509): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(485): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 a0001c0001t0005g0188 |
2 | 123 | 0.0163 | 492 | c.283 others(509): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643159 | C | CCATCCAT others(485): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01256.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0171 a0001c0001t0002g0274 others(3): Show |
7 | 128 | 0.0547 | 492 | c.283 others(509): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46643163 | C | CCATCCAT others(485): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0010 | a0002c0010t0047 | a0002c0010t0047g0061 | 1 | 314 | 0.0032 | 492 | c.283 others(509): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653220 | T | TCCTCCCC others(485): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0002 | 1 | 197 | 0.0051 | 492 | c.427 others(509): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(485): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 204 | 0.0049 | 492 | c.-36 others(503): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar |