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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3D1_chr19_2095988_2156566 | 2129177 | AGGGCCTC others(43): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0185 a0001c0008t0002g0186 a0001c0008t0002g0254 |
3 | 404 | 0.0074 | -50 | c.733 others(63): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 7/31 | chr19 | TogoVar | |||||||
AQP7B_chr2_94582311_94609628 | 94583292 | TTTGGGAA others(43): Show |
T | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 382 | 0.0026 | -50 | c.-41 others(61): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 4018 | chr2 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34946381 | CGGGGGGG others(43): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0254 | 1 | 310 | 0.0032 | -50 | c.330 others(67): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 5/34 | chr15 | TogoVar | |||||||
ARHGAP10_chr4_147727088_148077776 | 147784805 | TAATATAT others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0088 a0004c0010t0001g0048 |
2 | 67 | 0.0299 | -50 | c.155 others(69): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP21_chr10_24578614_24728887 | 24656308 | GCCTGGCC others(43): Show |
G | intron_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0216 | 1 | 350 | 0.0029 | -50 | c.268 others(69): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656889 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 a0001c0001t0002g0345 |
2 | 348 | 0.0057 | -50 | c.268 others(69): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24657069 | TGGGGGTG others(43): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 350 | 0.0029 | -50 | c.268 others(67): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGAP24_chr4_85470150_86007666 | 85487554 | CATATTAT others(43): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02145.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0006 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0002c0006t0006g0031 |
3 | 108 | 0.0278 | -50 | c.-21 others(69): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP25_chr2_68729811_68831833 | 68752301 | AATGAAAT others(43): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0005a0002c0002t0010a0002c0004t0005others(2): Show | a0001c0001t0005g0046 a0002c0002t0010g0045 a0002c0004t0005g0060 others(2): Show |
5 | 366 | 0.0137 | -50 | c.61+ others(67): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP31_chr3_119289383_119425714 | 119424300 | CCTGTTAA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02572.hp2 others(4): Show |
a0004a0009 | a0004c0007a0009c0011 | a0004c0007t0015a0004c0007t0043a0004c0007t0053others(1): Show | a0004c0007t0015g0017 a0004c0007t0015g0031 a0004c0007t0015g0053 others(4): Show |
7 | 308 | 0.0227 | -50 | c.*80 others(61): Show |
ARHGAP31 | ENSG00000031081.11 | transcript | ENST00000264245.9 | protein_coding | 3587 | chr3 | TogoVar | |||||||
ARHGEF28_chr5_73621196_73946990 | 73737439 | CTTCTTTT others(43): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 |
a0001a0004 | a0001c0025a0004c0004 | a0001c0025t0001a0004c0004t0001 | a0001c0025t0001g0156 a0004c0004t0001g0154 |
2 | 21 | 0.0952 | -50 | c.34- others(67): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73741377 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG03453.hp1 |
a0003a0007a0013 | a0003c0007a0007c0009a0013c0016 | a0003c0007t0001a0007c0009t0001a0013c0016t0001 | a0003c0007t0001g0140 a0007c0009t0001g0121 a0013c0016t0001g0126 |
3 | 161 | 0.0186 | -50 | c.34- others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73741379 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01175.hp2 others(1): Show |
a0003a0009a0014 | a0003c0048a0009c0012a0014c0066 | a0003c0048t0006a0009c0012t0003a0014c0066t0001 | a0003c0048t0006g0176 a0009c0012t0003g0108 a0009c0012t0003g0115 others(1): Show |
4 | 179 | 0.0223 | -50 | c.34- others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73775881 | GTCTTGAA others(43): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0001a0002a0003others(28): Show | a0001c0021a0001c0025a0002c0002others(51): Show | a0001c0021t0008a0001c0025t0001a0001c0025t0005others(84): Show | a0001c0021t0008g0102 a0001c0025t0001g0156 a0001c0025t0005g0130 others(126): Show |
129 | 186 | 0.6935 | -50 | c.660 others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 5/35 | chr5 | TogoVar | |||||||
ARRB2_chr17_4705632_4726497 | 4714563 | TTTCCCCT others(43): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042 a0001c0002t0001g0009 a0001c0002t0001g0033 others(7): Show |
20 | 93 | 0.2151 | -50 | c.24- others(63): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3112535 | GGGTCCTA others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02451.hp2 |
a0006 | a0006c0014a0006c0018 | a0006c0014t0002a0006c0018t0002 | a0006c0014t0002g0025 a0006c0018t0002g0131 |
2 | 189 | 0.0106 | -50 | c.*18 others(57): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 11/11 | 18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARVCF_chr22_19964896_20021823 | 19994550 | AGATGAAT others(43): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 NA18951.hp1 others(1): Show |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0238 others(1): Show |
4 | 371 | 0.0108 | -50 | c.-18 others(67): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 2/19 | chr22 | TogoVar | |||||||
ASB16_chr17_44165704_44184084 | 44180602 | TGGGGGGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 360 | 0.0028 | -50 | c.*22 others(61): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 1519 | chr17 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236237334 | CGCGGGGG others(43): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02683.hp1 HG03209.hp2 others(10): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0003t0001g0112 others(8): Show |
13 | 158 | 0.0823 | -50 | c.596 others(65): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236237388 | GGGGCCGG others(43): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01981.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(22): Show |
26 | 248 | 0.1048 | -50 | c.596 others(65): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608681 | ATATATTT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 293 | 0.0034 | -50 | c.478 others(69): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62355003 | CGCCTCCC others(43): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 368 | 0.0027 | -50 | c.191 others(67): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(43): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 134 | 0.0075 | -50 | c.364 others(67): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84395526 | TTGGCTCA others(43): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0113 | 1 | 430 | 0.0023 | -50 | c.100 others(67): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145205 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp1 others(15): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0294 a0001c0001t0001g0296 others(15): Show |
18 | 357 | 0.0504 | -50 | c.639 others(67): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70937030 | TGCTCACT others(43): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA19005.hp2 NA19010.hp1 |
a0001a0002 | a0001c0005a0001c0007a0002c0021 | a0001c0005t0001a0001c0007t0001a0002c0021t0001 | a0001c0005t0001g0108 a0001c0007t0001g0182 a0002c0021t0001g0362 |
3 | 427 | 0.0070 | -50 | c.118 others(67): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70937072 | AAGCCAGA others(43): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(305): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0022 others(267): Show |
308 | 437 | 0.7048 | -50 | c.118 others(67): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546469 | TATATGTG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02965.hp1 HG03453.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0273 others(12): Show |
18 | 408 | 0.0441 | -50 | c.-46 others(61): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3893 | chr2 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77931742 | CGGACGGG others(43): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 231 | 0.0043 | -50 | c.-22 others(69): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732131 | ATATGTAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(3): Show | a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0021g0001 others(3): Show |
6 | 204 | 0.0294 | -50 | c.-25 others(65): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28836555 | TCTGGCTT others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0017 | a0007c0017t0007 | a0007c0017t0007g0091 | 1 | 380 | 0.0026 | -50 | c.*29 others(59): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 22/22 | 291 | chr16 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 6 | 0.1667 | -50 | c.310 others(69): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579448 | ATATTATA others(43): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0304 a0001c0001t0011g0305 |
2 | 168 | 0.0119 | -50 | c.168 others(67): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(43): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG03041.hp2 HG03471.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0004t0001g0105 others(6): Show |
10 | 180 | 0.0556 | -50 | c.287 others(65): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 830862 | TGACTGTG others(43): Show |
T | frameshift_variant | HIGH | HG02027.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0002 | 1 | 390 | 0.0026 | -50 | c.516 others(57): Show |
p.Thr others(5): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4/5 | 526/907 | 516/756 | 172/251 | chr19 | TogoVar | |||
B3GNTL1_chr17_82937149_83056770 | 83003499 | CACTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0011a0001c0011t0012a0001c0014t0018 | a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 others(1): Show |
4 | 237 | 0.0169 | -50 | c.459 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003786 | CACTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 |
a0004 | a0004c0017 | a0004c0017t0002 | a0004c0017t0002g0137 a0004c0017t0002g0138 |
2 | 261 | 0.0077 | -50 | c.459 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83034471 | TTGATAAG others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(5): Show |
9 | 266 | 0.0338 | -50 | c.297 others(65): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17277228 | GTCTCCCT others(43): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 422 | 0.0024 | -50 | c.786 others(65): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 8/8 | chr19 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87998562 | ACGCACGT others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(157): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(23): Show | a0001c0002t0001g0053 a0001c0002t0002g0003 a0001c0002t0002g0004 others(150): Show |
160 | 350 | 0.4571 | -50 | c.363 others(67): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87999824 | GCGGCTGT others(43): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA18612.hp2 NA19054.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0292 a0001c0005t0003g0299 a0001c0005t0003g0302 |
3 | 350 | 0.0086 | -50 | c.363 others(67): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107613649 | TACAGCAT others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02897.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 others(2): Show |
5 | 396 | 0.0126 | -50 | c.690 others(65): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31104757 | GGGGGGTC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 165 | 0.0061 | -50 | c.-38 others(61): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3628 | chr16 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63145351 | AGGGGGCT others(43): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0156 others(31): Show |
34 | 262 | 0.1298 | -50 | c.586 others(69): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0037a0001c0006t0027 | a0001c0001t0037g0186 a0001c0006t0027g0176 |
2 | 170 | 0.0118 | -50 | c.241 others(67): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 30 | 0.0333 | -50 | c.490 others(65): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(43): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02886.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0002a0002c0002t0018a0003c0007t0032 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0002c0002t0018g0131 others(1): Show |
4 | 22 | 0.1818 | -50 | c.307 others(69): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346566 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 285 | 0.0035 | -50 | c.276 others(69): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829767 | TTTCTTTT others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0044 | 1 | 200 | 0.0050 | -50 | c.297 others(67): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112922847 | GCCCGGCC others(43): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 |
3 | 204 | 0.0147 | -50 | c.161 others(67): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 1/4 | chr7 | TogoVar |