| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRINP3_chr1_190092658_190482864 | 190181358 | TAAATA | T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0007g0198 | 3 | 240 | 0.0125 | -5 | c.962 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190221503 | GAAGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01074.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057a0001c0001t0001g0065a0001c0001t0001g0067others(21): Show | 24 | 240 | 0.1000 | -5 | c.961 others(22): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190240473 | GTTTGT | G | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0195 | 3 | 240 | 0.0125 | -5 | c.619 others(22): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190287884 | AATTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(79): Show | 82 | 240 | 0.3417 | -5 | c.237 others(22): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190365668 | TTAATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(74): Show | 77 | 240 | 0.3208 | -5 | c.237 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190374549 | CTAGAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp2 others(42): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(42): Show | 45 | 240 | 0.1875 | -5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190384189 | GGTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(74): Show | 77 | 240 | 0.3208 | -5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190405488 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0045others(7): Show | 10 | 240 | 0.0417 | -5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190408203 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(100): Show | 103 | 240 | 0.4292 | -5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190444239 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01891.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(15): Show | 18 | 240 | 0.0750 | -5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp1 HG01358.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0124a0001c0001t0002g0128a0001c0001t0002g0132others(13): Show | 16 | 266 | 0.0602 | -5 | c.249 others(24): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61765414 | TATATA | T | intron_variant | MODIFIER | NA18951.hp1 NA18982.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0006g0160others(1): Show | 4 | 266 | 0.0150 | -5 | c.209 others(26): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61765416 | TATATA | T | intron_variant | MODIFIER | HG03942.hp2 NA19011.hp1 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0003 | a0001c0001t0001g0007a0001c0001t0004g0162a0002c0002t0003g0235 | 3 | 266 | 0.0113 | -5 | c.209 others(26): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61765418 | TATATA | T | intron_variant | MODIFIER | HG00597.hp2 NA18522.hp1 NA18522.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0049others(1): Show | a0001c0001t0002g0128a0001c0001t0008g0244a0001c0001t0008g0245others(2): Show | 5 | 266 | 0.0188 | -5 | c.209 others(26): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61786930 | TATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(198): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0053a0001c0001t0001g0065a0001c0001t0002g0003others(197): Show | 201 | 266 | 0.7556 | -5 | c.147 others(24): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61787213 | ATATAT | A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0015a0001c0001t0050others(4): Show | a0001c0001t0006g0252a0001c0001t0015g0151a0001c0001t0015g0251others(7): Show | 10 | 266 | 0.0376 | -5 | c.147 others(24): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61787275 | ATATAT | A | intron_variant | MODIFIER | HG02027.hp2 HG02257.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0017 | a0001c0001t0002g0101a0001c0001t0002g0118a0001c0001t0002g0134others(4): Show | 7 | 266 | 0.0263 | -5 | c.147 others(24): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61794870 | GAAGAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(198): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0053a0001c0001t0001g0065a0001c0001t0002g0003others(197): Show | 201 | 266 | 0.7556 | -5 | c.134 others(24): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 9/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61848180 | ATTTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00735.hp2 others(34): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | 266 | 0.1391 | -5 | c.507 others(20): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 5/19 | chr17 | TogoVar | ||||||
| BRK1_chr3_10110675_10132190 | 10111774 | TCATGC | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0049others(58): Show | 79 | 356 | 0.2219 | -5 | c.-39 others(16): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 3900 | chr3 | TogoVar | ||||||
| BRK1_chr3_10110675_10132190 | 10131702 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0060a0001c0001t0002g0062others(14): Show | 22 | 356 | 0.0618 | -5 | c.*54 others(16): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4513 | chr3 | TogoVar | ||||||
| BRMS1L_chr14_35821338_35876963 | 35846217 | TCAAAA | T | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0059a0001c0001t0001g0060others(12): Show | 16 | 374 | 0.0428 | -5 | c.441 others(24): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BRMS1L_chr14_35821338_35876963 | 35862084 | ATAATT | A | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0059a0001c0001t0001g0060others(12): Show | 16 | 374 | 0.0428 | -5 | c.442 others(20): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
| BROX_chr1_222707564_222740187 | 222734443 | TATATC | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0028 | a0001c0001t0011g0003a0001c0001t0011g0089a0001c0001t0028g0003 | 6 | 386 | 0.0155 | -5 | c.*17 others(16): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 13/13 | 1733 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| BRSK1_chr19_55278997_55317562 | 55282337 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02004.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0228a0001c0001t0001g0290others(4): Show | 7 | 338 | 0.0207 | -5 | c.-21 others(16): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1659 | chr19 | TogoVar | ||||||
| BRSK1_chr19_55278997_55317562 | 55298209 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0002 | a0001c0002t0001g0203a0001c0002t0002g0054a0002c0003t0002g0006others(2): Show | 7 | 338 | 0.0207 | -5 | c.679 others(22): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BRWD1_chr21_39180482_39318632 | 39185295 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01975.hp1 others(7): Show |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0066a0001c0001t0002g0082a0001c0001t0003g0311others(7): Show | 10 | 338 | 0.0296 | -5 | c.*10 others(18): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39186673 | GTTCAC | G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp2 others(54): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0005a0003c0004t0010a0003c0004t0014others(7): Show | a0003c0004t0005g0091a0003c0004t0005g0096a0003c0004t0005g0097others(54): Show | 57 | 338 | 0.1686 | -5 | c.*95 others(16): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 41/41 | 9581 | chr21 | TogoVar | |||||
| BRWD1_chr21_39180482_39318632 | 39192261 | ACTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0008a0001c0020others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(145): Show | 148 | 338 | 0.4379 | -5 | c.*39 others(16): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 41/41 | 3993 | chr21 | TogoVar | |||||
| BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp2 HG01346.hp2 others(18): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0003c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0002g0039a0001c0001t0002g0049a0001c0001t0002g0053others(18): Show | 21 | 338 | 0.0621 | -5 | c.235 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39253286 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0022others(127): Show | 130 | 338 | 0.3846 | -5 | c.225 others(24): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 19/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39292121 | GTGGGT | G | intron_variant | MODIFIER | HG00544.hp2 HG02258.hp1 HG03540.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(3): Show | a0001c0001t0002g0063a0001c0001t0011g0072a0002c0002t0001g0231others(6): Show | 9 | 338 | 0.0266 | -5 | c.831 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39292122 | TGGGTG | T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0054a0001c0001t0002g0055a0001c0001t0013g0175others(2): Show | 5 | 338 | 0.0148 | -5 | c.831 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80726164 | CATGTT | C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0178 | 1 | 265 | 0.0038 | -5 | c.138 others(24): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 14/40 | chrX | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80730699 | TAAAAA | T | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0185 | 1 | 265 | 0.0038 | -5 | c.112 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80730808 | AAATTG | A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0176 | 1 | 265 | 0.0038 | -5 | c.112 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80740730 | CAACAA | C | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0011 | 1 | 265 | 0.0038 | -5 | c.813 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 8/40 | chrX | TogoVar | ||||||
| BSDC1_chr1_32359633_32399441 | 32386318 | CAAAAA | C | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 HG02109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0035others(15): Show | 27 | 170 | 0.1588 | -5 | c.189 others(20): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
| BSG_chr19_567596_588493 | 570673 | AGGGGT | A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0011others(11): Show | 14 | 306 | 0.0458 | -5 | c.-19 others(16): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1922 | chr19 | TogoVar | ||||||
| BSG_chr19_567596_588493 | 587211 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(116): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0023others(16): Show | a0001c0001t0003g0021a0001c0001t0003g0048a0001c0001t0007g0009others(72): Show | 119 | 306 | 0.3889 | -5 | c.*44 others(16): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 3719 | chr19 | TogoVar | ||||||
| BSND_chr1_54993933_55022172 | 54994011 | GGAAAA | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0058a0001c0001t0147a0001c0001t0171others(4): Show | a0001c0001t0058g0042a0001c0001t0147g0157a0001c0001t0171g0042others(4): Show | 9 | 448 | 0.0201 | -5 | c.-51 others(16): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 4921 | chr1 | TogoVar | ||||||
| BSN_chr3_49549477_49676549 | 49587887 | TTTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp1 others(8): Show |
a0002a0003a0014 | a0002c0002a0003c0003a0014c0037 | a0002c0002t0001a0003c0003t0010a0014c0037t0025 | a0002c0002t0001g0152a0002c0002t0001g0180a0002c0002t0001g0181others(8): Show | 11 | 186 | 0.0591 | -5 | c.224 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BSN_chr3_49549477_49676549 | 49600651 | AAAATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(61): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0008others(11): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(15): Show | a0001c0001t0002g0161a0001c0001t0007g0006a0001c0001t0007g0007others(61): Show | 64 | 186 | 0.3441 | -5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BSN_chr3_49549477_49676549 | 49606098 | CATATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(56): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0002c0008others(8): Show | a0001c0001t0012a0002c0002t0001a0002c0002t0005others(11): Show | a0001c0001t0012g0057a0002c0002t0001g0053a0002c0002t0001g0054others(56): Show | 59 | 186 | 0.3172 | -5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BSN_chr3_49549477_49676549 | 49606250 | ATATAT | A | intron_variant | MODIFIER | NA18612.hp2 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088a0002c0002t0001g0090 | 2 | 186 | 0.0108 | -5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
| BSPH1_chr19_47963046_47997170 | 47963893 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0105others(49): Show | 53 | 444 | 0.1194 | -5 | c.*43 others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | ||||||
| BSPH1_chr19_47963046_47997170 | 47984151 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(261): Show | 277 | 444 | 0.6239 | -5 | c.74- others(20): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| BSPH1_chr19_47963046_47997170 | 47984160 | AAAAAT | A | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0093a0001c0001t0001g0247a0001c0001t0001g0333others(3): Show | 6 | 444 | 0.0135 | -5 | c.74- others(20): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| BSPRY_chr9_113344541_113376222 | 113359048 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(46): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0167a0001c0001t0002g0004a0001c0001t0005g0045others(41): Show | 49 | 448 | 0.1094 | -5 | c.301 others(22): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| BST1_chr4_15698065_15737787 | 15726347 | TGAATG | T | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0002c0020a0004c0005 | a0001c0001t0001a0002c0020t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0309a0001c0001t0001g0316a0002c0020t0001g0174others(16): Show | 27 | 442 | 0.0611 | -5 | c.851 others(22): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 8/8 | chr4 | TogoVar |