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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 194 | 0.0052 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0405 |
2 | 195 | 0.0103 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0234 others(4): Show |
7 | 200 | 0.0350 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0062 | 1 | 194 | 0.0052 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
MIER2_chr19_300573_349796 | 303029 | T | TCTCATCA others(656): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 356 | 0.0028 | 663 | c.*36 others(674): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2543 | chr19 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543282 | T | TGGGGACA others(656): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 202 | 0.0050 | 663 | c.153 others(680): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13769697 | A | AGATCACA others(656): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 458 | 0.0022 | 663 | c.949 others(680): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(656): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 4 | 0.2500 | 663 | c.114 others(682): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841393 | C | CGGCGAGC others(656): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 186 | 0.0054 | 663 | c.361 others(682): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109353989 | A | ATCTATGA others(656): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0075 | 1 | 218 | 0.0046 | 663 | c.176 others(682): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATAATTA others(656): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG03834.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0010 | a0001c0002t0004g0061 a0001c0002t0004g0065 a0001c0007t0010g0006 |
3 | 27 | 0.1111 | 663 | c.862 others(680): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(656): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0007 | a0004c0007t0022 | a0004c0007t0022g0067 | 1 | 207 | 0.0048 | 663 | c.715 others(680): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044329 | G | GCCCCCCC others(656): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 65 | 0.0154 | 663 | c.278 others(680): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114113618 | C | CGGCGAGT others(656): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 22 | 0.0455 | 663 | c.55+ others(680): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(656): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 81 | 0.0123 | 663 | c.132 others(680): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49404094 | G | GTACATGT others(656): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 others(23): Show |
26 | 262 | 0.0992 | 663 | c.-3+ others(678): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(656): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0223 |
2 | 130 | 0.0154 | 663 | c.-75 others(682): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(656): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0117 | 1 | 113 | 0.0088 | 663 | c.-33 others(674): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355858 | T | CACTAACA others(656): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0059 | 1 | 68 | 0.0147 | 663 | c.-33 others(673): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3051 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356532 | T | CCACAGGC others(656): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0086 | 1 | 84 | 0.0119 | 663 | c.-40 others(674): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3725 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356559 | T | TCACAGTC others(656): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 88 | 0.0114 | 663 | c.-40 others(674): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3753 | chr17 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(656): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 149 | 0.0067 | 663 | c.-66 others(672): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(656): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0012 | 1 | 149 | 0.0067 | 663 | c.-12 others(682): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976416 | G | GCAGAGGG others(656): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0060 | 1 | 107 | 0.0093 | 663 | c.199 others(682): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977260 | C | CCACGCAG others(656): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0009 | a0009c0020 | a0009c0020t0070 | a0009c0020t0070g0009 | 1 | 96 | 0.0104 | 663 | c.199 others(682): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48499782 | T | TGAACCTG others(656): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0027 | 1 | 194 | 0.0052 | 663 | c.233 others(680): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(656): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 158 | 0.0063 | 663 | c.626 others(680): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(656): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 6 | 0.1667 | 663 | c.949 others(678): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(656): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0074 | 1 | 6 | 0.1667 | 663 | c.949 others(678): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46169626 | G | GCCCCTGC others(656): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 244 | 0.0041 | 663 | c.194 others(678): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(656): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 663 | c.*64 others(674): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(656): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 663 | c.*64 others(674): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(656): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0313 | 1 | 3 | 0.3333 | 663 | c.597 others(680): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(656): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 |
3 | 230 | 0.0130 | 663 | c.*73 others(674): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273296 | C | CCACATCA others(656): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0188 | 1 | 226 | 0.0044 | 663 | c.228 others(682): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(656): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 111 | 0.0090 | 663 | c.924 others(680): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418794 | T | TCCTTCCC others(656): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 92 | 0.0109 | 663 | c.215 others(680): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(656): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 230 | 0.0043 | 663 | c.961 others(678): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GGTTAGGG others(656): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0011g0040 |
2 | 167 | 0.0120 | 663 | c.*49 others(674): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507456 | A | ATATGTAT others(656): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0218 | 1 | 30 | 0.0333 | 663 | c.-23 others(680): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347035 | T | TGGACCTG others(656): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 133 | 0.0075 | 663 | c.204 others(684): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(656): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 2 | 0.5000 | 663 | c.-32 others(674): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(656): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0044 | 1 | 2 | 0.5000 | 663 | c.-32 others(674): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(656): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 2 | 0.5000 | 663 | c.-32 others(674): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(656): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(198): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(43): Show |
201 | 202 | 0.9950 | 663 | c.-32 others(674): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466813 | G | GGGGAGGG others(656): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0013 | 1 | 210 | 0.0048 | 663 | c.*43 others(672): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 304 | chrX | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(656): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 25 | 0.0400 | 663 | c.483 others(678): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501251 | A | ACTGGTGA others(656): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0283 | 1 | 287 | 0.0035 | 663 | c.268 others(682): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCTTCCC others(656): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 270 | 0.0037 | 663 | c.4-1 others(676): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975232 | T | TTTATATA others(657): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02976.hp1 |
a0003 | a0003c0018a0003c0043 | a0003c0018t0011a0003c0018t0036a0003c0043t0006 | a0003c0018t0011g0085 a0003c0018t0036g0224 a0003c0043t0006g0082 |
3 | 288 | 0.0104 | 664 | c.130 others(683): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar |