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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICDL2_chr16_3022682_3041944 | 3034658 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 2 | 163 | 0.0123 | 20 | c.282 others(35): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0226 |
2 | 208 | 0.0096 | 20 | c.-6+ others(35): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42846391 | T | TTAAATAA others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 | 1 | 200 | 0.0050 | 20 | c.184 others(39): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 181 | 0.0055 | 20 | c.225 others(37): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47672577 | G | GTGGATGG others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 |
a0002a0003 | a0002c0005a0003c0014 | a0002c0005t0002a0003c0014t0004 | a0002c0005t0002g0299 a0003c0014t0004g0304 |
2 | 187 | 0.0107 | 20 | c.-5- others(33): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0039 | a0002c0039t0004 | a0002c0039t0004g0208 | 1 | 130 | 0.0077 | 20 | c.228 others(39): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756531 | C | CTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0103 others(10): Show |
14 | 355 | 0.0394 | 20 | c.-58 others(37): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313220 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 NA18612.hp2 others(16): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0002t0002a0002c0012t0001 | a0002c0002t0001g0003 a0002c0002t0001g0073 a0002c0002t0001g0074 others(12): Show |
19 | 388 | 0.0490 | 20 | c.162 others(35): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313220 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 | 1 | 370 | 0.0027 | 20 | c.162 others(35): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01256.hp2 others(15): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0004c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0033 others(13): Show |
18 | 201 | 0.0896 | 20 | c.81+ others(35): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649850 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 147 | 0.0068 | 20 | c.9-5 others(33): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTATTT others(13): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 252 | 0.0040 | 20 | c.-62 others(31): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATGT others(13): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 62 | 0.0161 | 20 | c.-62 others(31): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 62 | 0.0161 | 20 | c.-62 others(31): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 62 | 0.0161 | 20 | c.-62 others(31): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102364139 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 229 | 0.0044 | 20 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364172 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18980.hp1 NA18987.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0006 | a0001c0001t0001a0001c0004t0001a0005c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0111 others(2): Show |
5 | 309 | 0.0162 | 20 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 233 | 0.0043 | 20 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 233 | 0.0043 | 20 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 233 | 0.0043 | 20 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATTT others(13): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 278 | 0.0036 | 20 | c.*52 others(31): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATGT others(13): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0006 | 1 | 68 | 0.0147 | 20 | c.*52 others(31): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATGT others(13): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0006 | 1 | 68 | 0.0147 | 20 | c.*52 others(31): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATGT others(13): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 | 1 | 68 | 0.0147 | 20 | c.*52 others(31): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140 | 1 | 32 | 0.0313 | 20 | c.324 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32444031 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0002a0001c0030t0002 | a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0020 others(3): Show |
6 | 253 | 0.0237 | 20 | c.433 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460245 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0026 a0001c0009t0001g0027 |
2 | 243 | 0.0082 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 74 | 0.0135 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460998 | C | CTCTCTTC others(13): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0002 | 1 | 229 | 0.0044 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461068 | T | TTCTCTTC others(13): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18963.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0172 a0002c0004t0001g0173 |
2 | 90 | 0.0222 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461068 | T | TTCTCTTC others(13): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0167 | 1 | 89 | 0.0112 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461068 | T | TTCTGTTC others(13): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18966.hp1 NA19000.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0016 | a0002c0002t0001a0002c0004t0001a0002c0016t0001 | a0002c0002t0001g0068 a0002c0004t0001g0170 a0002c0016t0001g0074 others(1): Show |
4 | 92 | 0.0435 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461126 | T | TCCTCTCC others(13): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 174 | 0.0057 | 20 | c.475 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 4 | 0.2500 | 20 | c.740 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32532134 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01952.hp2 HG01993.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0255 others(7): Show |
10 | 30 | 0.3333 | 20 | c.122 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32578979 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01433.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0008a0001c0013others(2): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0205 a0001c0001t0001g0240 a0001c0008t0001g0060 others(4): Show |
7 | 110 | 0.0636 | 20 | c.133 others(41): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32594713 | T | TGGATGGA others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0002a0001c0030t0002 | a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0020 others(4): Show |
7 | 272 | 0.0257 | 20 | c.135 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 67/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32609285 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0008 | a0008c0029 | a0008c0029t0001 | a0008c0029t0001g0181 | 1 | 163 | 0.0061 | 20 | c.142 others(41): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63242405 | G | GTGGATGG others(13): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02818.hp2 others(8): Show |
a0003a0004 | a0003c0021a0004c0005 | a0003c0021t0001a0004c0005t0001 | a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 others(1): Show |
11 | 298 | 0.0369 | 20 | c.*21 others(31): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1911 | chr20 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102843363 | T | TGGTTTCT others(13): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 402 | 0.0025 | 20 | c.*34 others(31): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 1831 | chr13 | TogoVar | |||||||
BLID_chr11_122110340_122121215 | 122112071 | C | CAAACAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01069.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 39 | 77 | 0.5065 | 20 | c.*35 others(31): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3268 | chr11 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11504367 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0238 | 1 | 107 | 0.0093 | 20 | c.-2+ others(35): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG04204.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0001 | a0001c0001t0002g0033 a0001c0011t0001g0014 |
2 | 39 | 0.0513 | 20 | c.-4- others(37): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55714709 | T | TACATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 408 | 0.0049 | 20 | c.-13 others(31): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1336 | chr12 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | AATTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0001 | 1 | 257 | 0.0039 | 20 | c.*33 others(29): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 331 | chr19 | TogoVar | ||||||
BLOC1S4_chr4_6711174_6722664 | 6716006 | C | CAGCGCGC others(13): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0002g0000 |
8 | 451 | 0.0177 | 20 | c.-20 others(29): Show |
BLOC1S4 | ENSG00000186222.5 | transcript | ENST00000320776.5 | protein_coding | 167 | chr4 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 28 | 0.0357 | 20 | c.196 others(37): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 28 | 0.0357 | 20 | c.196 others(37): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02559.hp1 HG03540.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0222 a0001c0003t0001g0191 a0001c0003t0001g0194 others(3): Show |
6 | 77 | 0.0779 | 20 | c.749 others(36): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122298639 | T | TTACTTCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0121 others(321): Show |
327 | 334 | 0.9790 | 20 | c.938 others(39): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |