| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANO1_chr11_70073317_70194530 | 70163987 | T | TAACTTTT others(314): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0291 | 1 | 302 | 0.0033 | 321 | c.195 others(338): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ANO5_chr11_22188085_22288357 | 22202148 | A | ATAAATCT others(314): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0296 | 1 | 364 | 0.0028 | 321 | c.41- others(336): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(314): Show |
intron_variant | MODIFIER | HG02148.hp2 NA19054.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0156a0001c0003t0001g0098 | 2 | 334 | 0.0060 | 321 | c.149 others(336): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
| AOPEP_chr9_94721699_95092159 | 94948416 | T | TCCCATTC others(314): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 182 | 0.0055 | 321 | c.166 others(340): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| APBB1IP_chr10_26433341_26572803 | 26564036 | T | TAAAAAGA others(314): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18957.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0142a0001c0001t0001g0238a0001c0001t0002g0258 | 3 | 358 | 0.0084 | 321 | c.147 others(340): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ARFGEF2_chr20_48916711_49041693 | 48959479 | C | CTCTCCCT others(314): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0074 | 1 | 352 | 0.0028 | 321 | c.839 others(338): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ARFGEF2_chr20_48916711_49041693 | 48959479 | C | CTCTCCCT others(314): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221a0001c0001t0002g0245 | 2 | 352 | 0.0057 | 321 | c.839 others(338): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ARFGEF2_chr20_48916711_49041693 | 48959479 | C | CTCTCCCT others(314): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 352 | 0.0028 | 321 | c.839 others(338): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85663336 | T | TAAGAATG others(314): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0054 | 1 | 108 | 0.0093 | 321 | c.181 others(340): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85663336 | T | TAAGAATG others(314): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0048others(19): Show | 22 | 108 | 0.2037 | 321 | c.181 others(340): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85663336 | T | TAAGAATG others(314): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0090a0001c0005t0003g0094 | 2 | 108 | 0.0185 | 321 | c.181 others(340): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85663336 | T | TAAGAATG others(314): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 108 | 0.0093 | 321 | c.181 others(340): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGAP35_chr19_46855997_47010077 | 46916382 | T | TCTGTCCC others(314): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02630.hp2 HG03669.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0043 | a0001c0001t0004g0081a0001c0001t0004g0085a0001c0001t0004g0245others(2): Show | 5 | 298 | 0.0168 | 321 | c.-18 others(340): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(314): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0142 | 1 | 246 | 0.0041 | 321 | c.-21 others(332): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
| ARHGDIB_chr12_14937031_14966601 | 14951698 | T | TAAAACAT others(314): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03098.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0283a0001c0002t0001g0009 | 9 | 464 | 0.0194 | 321 | c.-12 others(336): Show |
ARHGDIB | ENSG00000111348.9 | transcript | ENST00000228945.9 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
| ARHGEF28_chr5_73621196_73946990 | 73850085 | T | TGTTATTT others(314): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18961.hp1 NA19007.hp2 |
a0004a0018 | a0004c0004a0018c0026 | a0004c0004t0001a0018c0026t0001a0018c0026t0002 | a0004c0004t0001g0187a0018c0026t0001g0060a0018c0026t0002g0030 | 3 | 188 | 0.0160 | 321 | c.174 others(340): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ARHGEF2_chr1_155941854_155983547 | 155954589 | A | ATCTACTT others(314): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01981.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031a0001c0001t0001g0048a0001c0001t0001g0063others(12): Show | 15 | 284 | 0.0528 | 321 | c.178 others(338): Show |
ARHGEF2 | ENSG00000116584.22 | transcript | ENST00000361247.9 | protein_coding | 14/21 | chr1 | TogoVar | |||||||
| ARHGEF37_chr5_149576498_149639968 | 149639268 | T | TCTTTTTA others(314): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0001 | a0002c0001t0018 | a0002c0001t0018g0271 | 1 | 394 | 0.0025 | 321 | c.*70 others(332): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 4301 | chr5 | TogoVar | |||||||
| ARHGEF38_chr4_105547620_105685914 | 105629589 | T | TCAAATCT others(314): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0066 | 1 | 186 | 0.0054 | 321 | c.509 others(338): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGEF38_chr4_105547620_105685914 | 105629589 | T | TCAAATCT others(314): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 186 | 0.0054 | 321 | c.509 others(338): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGEF38_chr4_105547620_105685914 | 105629589 | T | TCAAATCT others(314): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG02027.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0163a0001c0002t0002g0057a0001c0002t0002g0084others(6): Show | 9 | 186 | 0.0484 | 321 | c.509 others(338): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ARHGEF7_chr13_111110310_111310732 | 111221373 | A | ATATATGT others(314): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102a0001c0001t0005g0103 | 2 | 274 | 0.0073 | 321 | c.670 others(338): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ARIH2_chr3_48913842_48991382 | 48951662 | T | TCAAAGAA others(314): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188a0001c0001t0004g0189 | 2 | 202 | 0.0099 | 321 | c.256 others(338): Show |
ARIH2 | ENSG00000177479.20 | transcript | ENST00000356401.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(314): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 264 | 0.0038 | 321 | c.102 others(338): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
| ARNT2_chr15_80399382_80602933 | 80566218 | T | TTATGTTT others(314): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02809.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0088a0002c0003t0009g0175a0002c0003t0009g0181others(2): Show | 5 | 268 | 0.0187 | 321 | c.131 others(340): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARSB_chr5_78772209_78990310 | 78957921 | T | TAAAAATC others(314): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19000.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0005 | a0001c0003t0003g0050a0001c0003t0005g0060 | 2 | 360 | 0.0056 | 321 | c.691 others(338): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
| ARSB_chr5_78772209_78990310 | 78957921 | T | TAAAAATC others(314): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01192.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0335a0001c0001t0002g0209a0001c0003t0001g0326others(9): Show | 12 | 360 | 0.0333 | 321 | c.691 others(338): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
| ASAH1_chr8_18050992_18089107 | 18085612 | T | TAAATAAG others(314): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 HG06807.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029a0001c0001t0004g0081 | 3 | 420 | 0.0071 | 321 | c.-15 others(332): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1506 | chr8 | TogoVar | |||||||
| ASTN2_chr9_116418112_117420057 | 116734543 | T | TAAAGACA others(314): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 102 | 0.0098 | 321 | c.239 others(340): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(314): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 |
a0001a0012 | a0001c0008a0012c0021 | a0001c0008t0045a0012c0021t0038 | a0001c0008t0045g0026a0012c0021t0038g0032 | 2 | 236 | 0.0085 | 321 | c.676 others(338): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| ATP10D_chr4_47480275_47598486 | 47494500 | T | TAAAGTTA others(314): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02071.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0003c0004others(3): Show | a0001c0003t0001a0002c0002t0001a0003c0004t0005others(3): Show | a0001c0003t0001g0058a0001c0003t0001g0065a0002c0002t0001g0031others(7): Show | 10 | 332 | 0.0301 | 321 | c.-38 others(338): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(314): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0227 | 1 | 254 | 0.0039 | 321 | c.39+ others(338): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51732647 | T | TTGGCCCC others(314): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0049a0001c0002t0016others(5): Show | a0001c0001t0003g0124a0001c0001t0003g0125a0001c0001t0049g0310others(10): Show | 13 | 312 | 0.0417 | 321 | c.69- others(336): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
| AVEN_chr15_33861227_34044204 | 33897891 | C | CAAAAAAT others(314): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0016 | 1 | 266 | 0.0038 | 321 | c.446 others(340): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
| B3GLCT_chr13_31194975_31337276 | 31335853 | G | GAAAAAAA others(314): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0162 | 1 | 268 | 0.0037 | 321 | c.*61 others(332): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3578 | chr13 | TogoVar | |||||||
| BABAM2_chr2_27885729_28343901 | 28047610 | T | TAAGAATT others(314): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 158 | 0.0063 | 321 | c.570 others(338): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| BACE2_chr21_41163160_41287530 | 41271224 | T | TGGATCTT others(314): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0037others(2): Show | a0001c0001t0007g0075a0001c0001t0007g0089a0001c0001t0007g0113others(10): Show | 13 | 272 | 0.0478 | 321 | c.130 others(340): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| BACE2_chr21_41163160_41287530 | 41271224 | T | TGGATCTT others(314): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0034 | a0001c0001t0007g0002a0001c0001t0007g0050a0001c0001t0007g0078others(3): Show | 6 | 272 | 0.0221 | 321 | c.130 others(340): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| BANK1_chr4_101785730_102079812 | 101928862 | T | TGGGTTAG others(314): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0215 | 1 | 284 | 0.0035 | 321 | c.120 others(342): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33143869 | T | TGTGTATC others(314): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0043 | 1 | 268 | 0.0037 | 321 | c.-11 others(338): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(314): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0017 | a0001c0017t0012 | a0001c0017t0012g0207 | 1 | 364 | 0.0028 | 321 | c.723 others(338): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
| BCAS3_chr17_60672851_61397831 | 60915611 | T | TGGACTTT others(314): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02922.hp1 HG02965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0002a0002c0005t0001a0002c0005t0002others(2): Show | a0001c0002t0002g0054a0002c0005t0001g0014a0002c0005t0001g0073others(3): Show | 6 | 74 | 0.0811 | 321 | c.993 others(338): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32270119 | T | TTTTTTTT others(314): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0242 | 1 | 290 | 0.0035 | 321 | c.427 others(340): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
| BLZF1_chr1_169363195_169393305 | 169369756 | T | TAGGTGAC others(314): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 2 | 366 | 0.0055 | 321 | c.28+ others(334): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| BNC2_chr9_16404503_16875670 | 16682301 | A | ACATCATA others(314): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03471.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0089a0004c0004t0061 | a0001c0001t0003g0016a0001c0001t0089g0030a0004c0004t0061g0137 | 3 | 176 | 0.0171 | 321 | c.330 others(340): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
| BPIFA3_chr20_33212352_33232806 | 33221655 | T | TAAAATCT others(314): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 416 | 0.0024 | 321 | c.128 others(338): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1423711 | T | TGGGCGTT others(314): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0341 | 1 | 360 | 0.0028 | 321 | c.92- others(338): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BTD_chr3_15596745_15658714 | 15597657 | T | TGGATCAT others(314): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 NA18985.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0024 | a0001c0002t0004g0211a0001c0002t0024g0007 | 2 | 416 | 0.0048 | 321 | c.-42 others(332): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 4087 | chr3 | TogoVar | |||||||
| C10orf90_chr10_126419997_126675693 | 126564835 | T | TATATATA others(314): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0146 | 1 | 218 | 0.0046 | 321 | c.314 others(340): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
| C11orf54_chr11_93736672_93769749 | 93744957 | T | TAAAGAAA others(314): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18940.hp2 NA18941.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013a0001c0001t0007g0210a0001c0001t0007g0211others(5): Show | 10 | 364 | 0.0275 | 321 | c.-97 others(338): Show |
C11orf54 | ENSG00000182919.15 | transcript | ENST00000354421.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |