| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0252 | 1 | 306 | 0.0033 | -13 | c.776 others(30): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | ||||||
| B9D2_chr19_41349417_41369149 | 41360654 | CGCCGCCA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0035a0001c0001t0004g0036 | 3 | 360 | 0.0083 | -13 | c.89- others(28): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
| BACE2_chr21_41163160_41287530 | 41221827 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0006g0171a0001c0001t0007g0075a0001c0001t0007g0244others(8): Show | 11 | 272 | 0.0404 | -13 | c.313 others(30): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACH1_chr21_29293922_29351148 | 29324231 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 368 | 0.0027 | -13 | c.235 others(30): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACH2_chr6_89921528_90301843 | 90065270 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0050a0001c0004t0066 | a0001c0001t0003g0029a0001c0001t0050g0025a0001c0004t0066g0027 | 3 | 194 | 0.0155 | -13 | c.-13 others(32): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90177295 | TTATTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0185 | 1 | 194 | 0.0052 | -13 | c.-16 others(34): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
| BAG4_chr8_38171855_38218301 | 38179149 | ATTATTTT others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0280a0001c0001t0019g0281 | 2 | 306 | 0.0065 | -13 | c.270 others(30): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BAG4_chr8_38171855_38218301 | 38201863 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0288 | 1 | 306 | 0.0033 | -13 | c.379 others(30): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
| BAG4_chr8_38171855_38218301 | 38201865 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0202a0001c0001t0001g0209 | 3 | 306 | 0.0098 | -13 | c.379 others(30): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
| BAG4_chr8_38171855_38218301 | 38205202 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0303 | 1 | 306 | 0.0033 | -13 | c.379 others(30): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BAG6_chr6_31634028_31657661 | 31646766 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0184 | 1 | 427 | 0.0023 | -13 | c.789 others(28): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 7/25 | chr6 | TogoVar | ||||||
| BAHCC1_chr17_81390457_81471331 | 81425305 | GTGGGTGA others(6): Show |
G | intron_variant | MODIFIER | NA19066.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0202 | 1 | 332 | 0.0030 | -13 | c.179 others(30): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BAHCC1_chr17_81390457_81471331 | 81446526 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0002 | a0003c0002t0035 | a0003c0002t0035g0197 | 1 | 332 | 0.0030 | -13 | c.316 others(30): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BAIAP2L1_chr7_98286650_98406090 | 98405333 | CTTGCTTG others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0134 | 1 | 298 | 0.0034 | -13 | c.-44 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4244 | chr7 | TogoVar | ||||||
| BAIAP2L2_chr22_38079900_38115684 | 38097998 | CGGTCTCG others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(7): Show | 10 | 18 | 0.5556 | -13 | c.465 others(26): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
| BAIAP2L2_chr22_38079900_38115684 | 38101371 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01168.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | 18 | 0.5000 | -13 | c.277 others(30): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | TogoVar | ||||||
| BAIAP2L2_chr22_38079900_38115684 | 38111411 | CGGTCAAG others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG01081.hp2 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | 18 | 0.6111 | -13 | c.-89 others(22): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 728 | chr22 | TogoVar | ||||||
| BAK1_chr6_33567552_33585276 | 33577796 | ACCTCGTG others(6): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 434 | 0.0023 | -13 | c.-31 others(28): Show |
BAK1 | ENSG00000030110.14 | transcript | ENST00000374467.4 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| BAMBI_chr10_28672521_28687932 | 28677304 | ACCAGCCG others(6): Show |
A | upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -13 | c.-59 others(22): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 216 | chr10 | TogoVar | ||||||
| BANF2_chr20_17694966_17740871 | 17708480 | CTCAGAAG others(6): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 400 | 0.0025 | -13 | c.-16 others(32): Show |
BANF2 | ENSG00000125888.15 | transcript | ENST00000246090.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101803997 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA18975.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0210a0002c0003t0002g0211 | 2 | 284 | 0.0070 | -13 | c.70+ others(30): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02630.hp2 others(1): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0004c0009 | a0001c0002t0004a0003c0004t0001a0004c0009t0001 | a0001c0002t0004g0130a0003c0004t0001g0263a0004c0009t0001g0117others(1): Show | 4 | 284 | 0.0141 | -13 | c.469 others(30): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BAP1_chr3_52396008_52415008 | 52405492 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 348 | 0.0029 | -13 | c.932 others(28): Show |
BAP1 | ENSG00000163930.10 | transcript | ENST00000460680.6 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214770768 | CGAAGGTA others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0117 | 1 | 362 | 0.0028 | -13 | c.131 others(32): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214785071 | TTCTTCCC others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show |
a0002a0004a0005others(9): Show | a0002c0001a0002c0033a0004c0007others(11): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0005others(42): Show | a0002c0001t0001g0001a0002c0001t0001g0007a0002c0001t0001g0008others(136): Show | 153 | 362 | 0.4227 | -13 | c.365 others(30): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
| BASP1_chr5_17212631_17281834 | 17267526 | TTTTTGAG others(6): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0250 | 1 | 370 | 0.0027 | -13 | c.-9- others(28): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| BASP1_chr5_17212631_17281834 | 17275983 | ATCTCCTC others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0007 | a0004c0007t0046 | a0004c0007t0046g0313 | 1 | 370 | 0.0027 | -13 | c.*93 others(21): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 2/2 | 93 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| BAX_chr19_48949875_48966798 | 48957265 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 418 | 0.0024 | -13 | c.369 others(28): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BAZ1A_chr14_34747731_34880360 | 34784367 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 380 | 0.0026 | -13 | c.183 others(30): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34836378 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0024others(9): Show | 12 | 380 | 0.0316 | -13 | c.393 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34844205 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0013 | a0001c0002t0003a0001c0002t0004a0001c0004t0004others(1): Show | a0001c0002t0003g0186a0001c0002t0004g0364a0001c0002t0004g0365others(5): Show | 8 | 380 | 0.0211 | -13 | c.392 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG02055.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0195a0001c0001t0005g0196a0001c0002t0001g0093 | 3 | 200 | 0.0150 | -13 | c.343 others(32): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73511500 | CAAAAAAT others(6): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03516.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180a0001c0001t0005g0181a0001c0001t0005g0182 | 3 | 200 | 0.0150 | -13 | c.108 others(28): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73523912 | TGGAGACC others(6): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197 | 1 | 200 | 0.0050 | -13 | c.-19 others(24): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1620 | chr7 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73524009 | GGGAAGCT others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197 | 1 | 200 | 0.0050 | -13 | c.-20 others(24): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1717 | chr7 | TogoVar | ||||||
| BAZ2A_chr12_56590596_56635326 | 56597621 | AGCGCGCT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0070 | a0001c0003t0070g0225 | 1 | 316 | 0.0032 | -13 | c.*98 others(22): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 984 | chr12 | TogoVar | |||||
| BAZ2B_chr2_159313979_159621548 | 159495484 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 216 | 0.0046 | -13 | c.-2- others(30): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(30): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(8): Show | a0001c0001t0001g0121a0001c0001t0001g0127a0001c0001t0002g0150others(30): Show | 33 | 216 | 0.1528 | -13 | c.-46 others(32): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
| BBLN_chr9_128155265_128168924 | 128159595 | AAGAGGTA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 396 | 0.0025 | -13 | c.-81 others(22): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 669 | chr9 | TogoVar | ||||||
| BBOF1_chr14_74014349_74071092 | 74037274 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 386 | 0.0026 | -13 | c.495 others(30): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBOF1_chr14_74014349_74071092 | 74062051 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
a0004 | a0004c0007a0004c0009 | a0004c0007t0003a0004c0009t0007 | a0004c0007t0003g0004a0004c0007t0003g0005a0004c0007t0003g0007others(5): Show | 8 | 386 | 0.0207 | -13 | c.157 others(32): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBS4_chr15_72681207_72743473 | 72726099 | CTTCCTTC others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01070.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0034others(18): Show | 22 | 398 | 0.0553 | -13 | c.587 others(30): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0064a0001c0001t0002g0086a0001c0001t0002g0096others(18): Show | 23 | 398 | 0.0578 | -13 | c.386 others(30): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33256155 | TAAAAACA others(6): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(28): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0027a0001c0001t0003g0038others(28): Show | 31 | 268 | 0.1157 | -13 | c.443 others(30): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33492212 | AACAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0266 | 2 | 268 | 0.0075 | -13 | c.211 others(34): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107584672 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 222 | 0.0045 | -13 | c.-84 others(32): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107596589 | GCAGAGAA others(6): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 222 | 0.0045 | -13 | c.-83 others(32): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107769228 | AGACAGAT others(6): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0046 | a0001c0001t0021g0101a0001c0001t0046g0213 | 2 | 222 | 0.0090 | -13 | c.907 others(30): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BCAS1_chr20_53938541_54075594 | 54042754 | GAAGAAAT others(6): Show |
G | intron_variant | MODIFIER | NA18957.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0013 | 1 | 364 | 0.0028 | -13 | c.143 others(32): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 60673542 | CAAAAGAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 74 | 0.0135 | -13 | c.-43 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4308 | chr17 | TogoVar |