| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCB5_chr7_20610667_20762008 | 20712721 | T | TTCCTTAT others(344): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0165 | 1 | 360 | 0.0028 | 351 | c.242 others(370): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1052343 | G | GGGCTCAC others(344): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0011a0001c0013t0018 | a0001c0002t0011g0109a0001c0013t0018g0108 | 2 | 337 | 0.0059 | 351 | c.156 others(370): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
| ACSM3_chr16_20759014_20802581 | 20766305 | T | TAAGAAAT others(344): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 356 | 0.0028 | 351 | c.-52 others(368): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ADAMTS6_chr5_65143738_65486920 | 65230356 | T | TGATATAT others(344): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 204 | 0.0049 | 351 | c.193 others(370): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
| ADAMTS6_chr5_65143738_65486920 | 65230356 | T | TTATATAT others(344): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 204 | 0.0049 | 351 | c.193 others(370): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(344): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 352 | 0.0028 | 351 | c.*51 others(362): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
| ADPRHL1_chr13_113394611_113458488 | 113412924 | A | ACTCGGTT others(344): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0071 | 1 | 262 | 0.0038 | 351 | c.106 others(370): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
| ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(344): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0049 | a0049c0025 | a0049c0025t0051 | a0049c0025t0051g0183 | 1 | 262 | 0.0038 | 351 | c.106 others(370): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
| ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(344): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0019 | a0001c0001t0001g0032a0001c0001t0001g0119a0001c0001t0018g0029others(1): Show | 4 | 262 | 0.0153 | 351 | c.106 others(370): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
| AGPS_chr2_177387773_177548834 | 177453985 | C | CCCCCTCT others(344): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03239.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0120a0001c0001t0001g0144 | 3 | 258 | 0.0116 | 351 | c.871 others(368): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ALDH18A1_chr10_95600941_95661711 | 95627213 | G | GAGAAAAT others(344): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 372 | 0.0027 | 351 | c.107 others(368): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
| ALDH1A1_chr9_72895671_72958053 | 72928053 | C | CTAAAGTA others(344): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 306 | 0.0033 | 351 | c.442 others(366): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 4/12 | chr9 | TogoVar | |||||||
| ALDH1A1_chr9_72895671_72958053 | 72928053 | C | CTAAAGTA others(344): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 306 | 0.0033 | 351 | c.442 others(366): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 4/12 | chr9 | TogoVar | |||||||
| AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATT others(344): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0076 | 1 | 288 | 0.0035 | 351 | c.70- others(368): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132758875 | C | CCACCCAC others(344): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0214 | 1 | 350 | 0.0029 | 351 | c.181 others(368): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(344): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03041.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0066a0001c0001t0001g0133 | 3 | 334 | 0.0090 | 351 | c.149 others(366): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
| AP1G1_chr16_71724000_71813834 | 71799606 | T | TAAAAAAC others(344): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 320 | 0.0031 | 351 | c.-4+ others(366): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128626 | C | CCCCACAG others(344): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 406 | 0.0025 | 351 | c.806 others(366): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128943 | C | CCCCACAG others(344): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0365 | 1 | 406 | 0.0025 | 351 | c.806 others(366): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128983 | C | CCCCACAG others(344): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 406 | 0.0025 | 351 | c.806 others(366): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| AP4E1_chr15_50903683_51010895 | 50930264 | A | ACCATGTT others(344): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02922.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021a0003c0004t0007g0022a0003c0004t0007g0023others(3): Show | 6 | 392 | 0.0153 | 351 | c.703 others(366): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| APBB2_chr4_40805027_41219542 | 41009229 | G | GAAAAAAA others(344): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0053 | a0002c0001t0053g0143 | 1 | 192 | 0.0052 | 351 | c.835 others(368): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144602171 | G | GTGTGTGC others(344): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0072 | 1 | 246 | 0.0041 | 351 | c.80+ others(366): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144686977 | C | CCCCGTGA others(344): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 246 | 0.0041 | 351 | c.-13 others(362): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1132 | chr8 | TogoVar | |||||||
| ARHGDIG_chr16_275591_288010 | 285937 | C | CCCCGCGG others(344): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG01934.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 2 | 442 | 0.0045 | 351 | c.*31 others(362): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2928 | chr16 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1839145 | A | ATGGGGAC others(344): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0144a0001c0154 | a0001c0144t0062a0001c0154t0009 | a0001c0144t0062g0339a0001c0154t0009g0265 | 2 | 363 | 0.0055 | 351 | c.-47 others(368): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1849412 | G | GCGTGGAC others(344): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0206 | 1 | 363 | 0.0028 | 351 | c.37+ others(366): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF4_chr2_130831914_131052253 | 130899940 | T | TCAATTCT others(344): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0144 | 1 | 144 | 0.0069 | 351 | c.40- others(368): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ARHGEF7_chr13_111110310_111310732 | 111221373 | A | ATATATGT others(344): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 274 | 0.0037 | 351 | c.670 others(368): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ARID1B_chr6_156772378_157215779 | 157076540 | C | CTCATGCC others(344): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0017 | a0001c0017t0020 | a0001c0017t0020g0055 | 1 | 150 | 0.0067 | 351 | c.224 others(370): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(344): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 264 | 0.0038 | 351 | c.102 others(368): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
| ASAP1_chr8_130047104_130448674 | 130049663 | G | GGGGCAGA others(344): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056a0001c0001t0002g0057 | 2 | 308 | 0.0065 | 351 | c.*50 others(362): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2440 | chr8 | TogoVar | |||||||
| ASB5_chr4_176208673_176274222 | 176218280 | T | TATATATA others(344): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0302 | 1 | 410 | 0.0024 | 351 | c.671 others(368): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
| ASIC3_chr7_151043531_151057754 | 151043612 | A | AGGGTGCA others(344): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 351 | c.-52 others(362): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 4918 | chr7 | TogoVar | |||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0113 | 1 | 356 | 0.0028 | 351 | c.924 others(368): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 |
a0002a0012 | a0002c0001a0012c0020 | a0002c0001t0006a0012c0020t0006 | a0002c0001t0006g0172a0012c0020t0006g0178a0012c0020t0006g0179 | 3 | 356 | 0.0084 | 351 | c.924 others(368): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0040 | a0002c0001t0040g0166 | 1 | 356 | 0.0028 | 351 | c.924 others(368): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0177 | 1 | 356 | 0.0028 | 351 | c.924 others(368): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
| ATOX1_chr5_151737822_151763631 | 151740098 | G | GAAAGATA others(344): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0075 | 3 | 378 | 0.0079 | 351 | c.*29 others(362): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 2723 | chr5 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(344): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0109 | 1 | 236 | 0.0042 | 351 | c.676 others(368): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| AXIN1_chr16_282440_357723 | 285937 | C | CCCCGCGG others(344): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0335 | 1 | 378 | 0.0027 | 351 | c.*21 others(362): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1502 | chr16 | TogoVar | |||||||
| B4GALT1_chr9_33105642_33172336 | 33126594 | A | AAACATTG others(344): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0011 | 2 | 366 | 0.0055 | 351 | c.649 others(368): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
| BAIAP3_chr16_1328645_1354439 | 1339817 | A | AGGCACAC others(344): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01106.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0029others(1): Show | a0001c0002t0001g0017a0001c0002t0001g0061a0001c0002t0001g0064others(6): Show | 12 | 358 | 0.0335 | 351 | c.408 others(366): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | chr16 | TogoVar | |||||||
| BAIAP3_chr16_1328645_1354439 | 1339937 | G | GCACACAG others(344): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp2 NA19240.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0001a0004c0011t0003 | a0001c0002t0001g0167a0004c0011t0003g0042a0004c0011t0003g0166 | 4 | 358 | 0.0112 | 351 | c.408 others(366): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33155705 | A | AAGAAATA others(344): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0225a0001c0001t0001g0230 | 3 | 268 | 0.0112 | 351 | c.328 others(364): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33155705 | A | AAGAAATA others(344): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 268 | 0.0037 | 351 | c.328 others(364): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(344): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03225.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0028a0001c0001t0002g0031a0001c0001t0002g0032others(2): Show | 5 | 257 | 0.0195 | 351 | c.-40 others(368): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(344): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 257 | 0.0039 | 351 | c.-40 others(368): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
| CACHD1_chr1_64465129_64698053 | 64492378 | T | TCCCCCTA others(344): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 166 | 0.0060 | 351 | c.198 others(370): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CACHD1_chr1_64465129_64698053 | 64492378 | T | TCCCCCTA others(344): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01255.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0072others(10): Show | 13 | 166 | 0.0783 | 351 | c.198 others(370): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |