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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPEP1_chr16_89608642_89643433 | 89634612 | C | CCTTCCTT others(1072): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 248 | 0.0040 | 1079 | c.105 others(1096): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25399659 | A | AGATACTT others(1072): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0047 others(3): Show |
6 | 88 | 0.0682 | 1079 | c.157 others(1100): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25399659 | A | AGATACTT others(1072): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(75): Show |
78 | 160 | 0.4875 | 1079 | c.157 others(1100): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1072): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 181 | 0.0055 | 1079 | c.*14 others(1090): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1072): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 169 | 0.0059 | 1079 | c.119 others(1098): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1072): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0229 | 1 | 162 | 0.0062 | 1079 | c.-19 others(1090): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1072): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 191 | 0.0052 | 1079 | c.193 others(1098): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1072): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0016 a0001c0002t0001g0061 |
2 | 213 | 0.0094 | 1079 | c.193 others(1098): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03579.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 others(1): Show |
4 | 207 | 0.0193 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01496.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0034 others(31): Show |
42 | 245 | 0.1714 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 204 | 0.0049 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1072): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01257.hp2 HG02056.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 a0001c0002t0001g0287 a0001c0002t0001g0288 others(20): Show |
23 | 226 | 0.1018 | 1079 | c.-81 others(1088): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926744 | G | GGAAGGAG others(1072): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 267 | 0.0037 | 1079 | c.250 others(1094): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1072): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0083 | a0001c0083t0001 | a0001c0083t0001g0125 | 1 | 43 | 0.0233 | 1079 | c.575 others(1100): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1072): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 2 | 0.5000 | 1079 | c.438 others(1096): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1072): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0019 | a0019c0042 | a0019c0042t0001 | a0019c0042t0001g0135 | 1 | 100 | 0.0100 | 1079 | c.45- others(1094): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1072): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 28 | 0.0357 | 1079 | c.-50 others(1090): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628666 | A | AGGGGGTG others(1072): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0001 | a0002c0001t0052 | a0002c0001t0052g0157 | 1 | 336 | 0.0030 | 1079 | c.299 others(1096): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628699 | A | ACGGGGAT others(1072): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0002 | 1 | 313 | 0.0032 | 1079 | c.299 others(1096): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TNFRSF10B_chr8_23015133_23074031 | 23047234 | G | ATAATCCC others(1072): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0023 | 1 | 296 | 0.0034 | 1079 | c.145 others(1096): Show |
TNFRSF10B | ENSG00000120889.13 | transcript | ENST00000276431.9 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1073): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0110 | 1 | 153 | 0.0065 | 1080 | c.130 others(1099): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1073): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0024 | 1 | 153 | 0.0065 | 1080 | c.130 others(1099): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288845 | T | TCCGTCCC others(1073): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 242 | 0.0041 | 1080 | c.*47 others(1091): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3545 | chr1 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224494 | G | GGCAGGGC others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02135.hp2 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0052a0001c0001t0110 | a0001c0001t0010g0285 a0001c0001t0010g0286 a0001c0001t0010g0287 others(3): Show |
6 | 348 | 0.0172 | 1080 | c.*22 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2299 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02698.hp1 HG03490.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0056a0001c0001t0082a0001c0001t0083others(1): Show | a0001c0001t0056g0257 a0001c0001t0082g0072 a0001c0001t0083g0071 others(1): Show |
4 | 16 | 0.2500 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0007a0001c0001t0047a0001c0001t0061others(8): Show | a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0007g0218 others(30): Show |
33 | 45 | 0.7333 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0284 | 1 | 13 | 0.0769 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0108 | a0001c0002t0108g0161 | 1 | 13 | 0.0769 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144382058 | C | CAGGATTA others(1073): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 130 | 0.0077 | 1080 | c.117 others(1095): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 143 | 0.0070 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 143 | 0.0070 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 248 | 0.0040 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 85 | 0.0118 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758169 | A | ATTCCGAC others(1073): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0100 | 1 | 273 | 0.0037 | 1080 | c.655 others(1099): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652904 | T | TGTATTGC others(1073): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0108 | 1 | 228 | 0.0044 | 1080 | c.676 others(1097): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1073): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 299 | 0.0033 | 1080 | c.*36 others(1091): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144280939 | G | GTTTAATA others(1073): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 390 | 0.0026 | 1080 | c.310 others(1097): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1073): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
2 | 11 | 0.1818 | 1080 | c.327 others(1097): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882024 | C | CAGGGGGA others(1073): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0286 | 1 | 261 | 0.0038 | 1080 | c.303 others(1099): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02922.hp1 |
a0001a0002 | a0001c0007a0002c0008a0002c0009 | a0001c0007t0009a0002c0008t0001a0002c0009t0032 | a0001c0007t0009g0017 a0002c0008t0001g0028 a0002c0009t0032g0026 |
3 | 102 | 0.0294 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0090 | 1 | 100 | 0.0100 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 |
2 | 101 | 0.0198 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1073): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0018 | a0018c0028 | a0018c0028t0001 | a0018c0028t0001g0133 | 1 | 2 | 0.5000 | 1080 | c.273 others(1095): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1073): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0034 | a0034c0032 | a0034c0032t0003 | a0034c0032t0003g0315 | 1 | 2 | 0.5000 | 1080 | c.273 others(1095): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1073): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0202 | 1 | 8 | 0.1250 | 1080 | c.328 others(1097): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 262037 | A | ACAGGGCA others(1073): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276 | 1 | 286 | 0.0035 | 1080 | c.-95 others(1099): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(1073): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 173 | 0.0058 | 1080 | c.361 others(1099): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(1073): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0197 | 1 | 171 | 0.0058 | 1080 | c.85- others(1097): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0122 | 1 | 134 | 0.0075 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0324 | 1 | 134 | 0.0075 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |