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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC77_chr12_396644_447642 | 421235 | C | CACATAGC others(1098): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 | 1 | 432 | 0.0023 | 1105 | c.413 others(1122): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1098): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(16): Show |
a0001a0028a0053 | a0001c0002a0001c0004a0028c0055others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0004t0002others(2): Show | a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0081 others(15): Show |
19 | 384 | 0.0495 | 1105 | c.273 others(1120): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1098): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0182 a0002c0003t0001g0184 |
2 | 204 | 0.0098 | 1105 | c.223 others(1124): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878168 | A | ATAAATAT others(1098): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 208 | 0.0048 | 1105 | c.192 others(1124): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | chrX | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1098): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 148 | 0.0068 | 1105 | c.183 others(1124): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(1098): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 174 | 0.0058 | 1105 | c.193 others(1124): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1098): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0039 | 1 | 143 | 0.0070 | 1105 | c.344 others(1122): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1098): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0012 | a0004c0012t0032 | a0004c0012t0032g0205 | 1 | 366 | 0.0027 | 1105 | c.-36 others(1116): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1098): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 1 | 348 | 0.0029 | 1105 | c.*87 others(1114): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(1098): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 236 | 0.0042 | 1105 | c.193 others(1124): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(1098): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0022 | a0022c0029 | a0022c0029t0050 | a0022c0029t0050g0009 | 1 | 292 | 0.0034 | 1105 | c.218 others(1122): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(1098): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 294 | 0.0034 | 1105 | c.902 others(1120): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(1098): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0282 | 1 | 380 | 0.0026 | 1105 | c.255 others(1124): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1098): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0195 | 1 | 282 | 0.0036 | 1105 | c.299 others(1120): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1098): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01433.hp2 others(8): Show |
a0003a0004a0019others(1): Show | a0003c0007a0003c0012a0003c0013others(6): Show | a0003c0007t0001a0003c0012t0001a0003c0013t0001others(6): Show | a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0012t0001g0025 others(8): Show |
11 | 134 | 0.0821 | 1105 | c.575 others(1126): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1098): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0014 | a0004c0014t0004 | a0004c0014t0004g0024 | 1 | 134 | 0.0075 | 1105 | c.575 others(1126): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1098): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0048 | a0004c0048t0019 | a0004c0048t0019g0015 | 1 | 134 | 0.0075 | 1105 | c.575 others(1126): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1098): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0044 | a0044c0027 | a0044c0027t0001 | a0044c0027t0001g0031 | 1 | 134 | 0.0075 | 1105 | c.575 others(1126): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401948 | G | GACCCGCT others(1098): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0069 a0001c0004t0001g0070 |
2 | 216 | 0.0093 | 1105 | c.173 others(1124): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(1098): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 133 | 0.0075 | 1105 | c.351 others(1124): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(1098): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0017 | a0017c0007 | a0017c0007t0014 | a0017c0007t0014g0023 | 1 | 133 | 0.0075 | 1105 | c.351 others(1124): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1098): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0142 | 1 | 154 | 0.0065 | 1105 | c.108 others(1122): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1098): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0004 | a0004c0016 | a0004c0016t0007 | a0004c0016t0007g0116 | 1 | 154 | 0.0065 | 1105 | c.108 others(1122): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934513 | G | GGGGAGGC others(1098): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0272 | 1 | 434 | 0.0023 | 1105 | c.843 others(1122): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289337 | C | CCGTGTCT others(1098): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 290 | 0.0035 | 1105 | c.166 others(1122): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1098): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 324 | 0.0031 | 1105 | c.115 others(1122): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401948 | G | GACCCGCT others(1098): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 242 | 0.0041 | 1105 | c.*39 others(1116): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3767 | chr11 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098513 | G | GCCCCCCT others(1098): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 118 | 0.0085 | 1105 | c.125 others(1122): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628357 | A | AGGGGATG others(1098): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0010 | a0010c0016 | a0010c0016t0002 | a0010c0016t0002g0260 | 1 | 352 | 0.0028 | 1105 | c.299 others(1120): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 646445 | T | TGGCTCCC others(1098): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0013 | a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 others(2): Show |
5 | 232 | 0.0216 | 1105 | c.608 others(1122): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1099): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0185 | 1 | 306 | 0.0033 | 1106 | c.130 others(1125): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1099): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0013 | a0013c0041 | a0013c0041t0001 | a0013c0041t0001g0191 | 1 | 306 | 0.0033 | 1106 | c.130 others(1125): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1099): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 242 | 0.0041 | 1106 | c.927 others(1123): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1099): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0240 | 1 | 242 | 0.0041 | 1106 | c.927 others(1123): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1099): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 376 | 0.0027 | 1106 | c.63+ others(1119): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1099): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 376 | 0.0027 | 1106 | c.63+ others(1119): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1099): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01981.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0084 |
3 | 376 | 0.0080 | 1106 | c.63+ others(1119): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1099): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 376 | 0.0027 | 1106 | c.63+ others(1119): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293470 | A | ACCTGCCA others(1099): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0268 | 1 | 284 | 0.0035 | 1106 | c.411 others(1123): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1099): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0183 | 1 | 204 | 0.0049 | 1106 | c.223 others(1125): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1099): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0194 | 1 | 272 | 0.0037 | 1106 | c.109 others(1125): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1099): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0090 | 1 | 272 | 0.0037 | 1106 | c.109 others(1125): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1099): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02300.hp2 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0049a0001c0019t0002 | a0001c0003t0049g0158 a0001c0019t0002g0159 |
2 | 272 | 0.0074 | 1106 | c.109 others(1125): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(1099): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0187 | 1 | 230 | 0.0044 | 1106 | c.724 others(1125): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251145 | C | CACACATC others(1099): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 116 | 0.0086 | 1106 | c.207 others(1125): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1099): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0109 | a0001c0109t0001 | a0001c0109t0001g0210 | 1 | 252 | 0.0040 | 1106 | c.118 others(1125): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1099): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0011 | 1 | 143 | 0.0070 | 1106 | c.344 others(1123): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635271 | A | ACCGTGTC others(1099): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 | 1 | 328 | 0.0031 | 1106 | c.163 others(1123): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186049 | G | GGGGAGGA others(1099): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 1 | 384 | 0.0026 | 1106 | c.*49 others(1117): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4871 | chr16 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCTAC others(1099): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 398 | 0.0025 | 1106 | c.64+ others(1123): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar |