| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BAX_chr19_48949875_48966798 | 48956819 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(195): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(104): Show | 198 | 418 | 0.4737 | -6 | c.369 others(21): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BAZ1A_chr14_34747731_34880360 | 34759171 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0005others(2): Show | a0001c0001t0001g0305a0001c0001t0001g0306a0001c0002t0002g0061others(10): Show | 13 | 380 | 0.0342 | -6 | c.424 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34796165 | TACACAC | T | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336a0001c0001t0001g0337a0001c0001t0001g0338 | 3 | 380 | 0.0079 | -6 | c.112 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34820967 | CAGAGTA | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(78): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0102a0001c0002t0001g0124a0001c0002t0001g0125others(78): Show | 81 | 380 | 0.2132 | -6 | c.536 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34829267 | GAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(117): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0002g0095a0001c0002t0002g0096a0001c0002t0002g0097others(117): Show | 120 | 380 | 0.3158 | -6 | c.393 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34844775 | GCGCACA | G | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0003t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0023others(24): Show | 27 | 380 | 0.0711 | -6 | c.392 others(25): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34868894 | ATGTATG | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(47): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0005 | a0001c0002t0002g0138a0001c0002t0003g0001a0001c0002t0003g0140others(47): Show | 50 | 380 | 0.1316 | -6 | c.113 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34877740 | AAATTAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(165): Show | 168 | 380 | 0.4421 | -6 | c.-26 others(17): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2381 | chr14 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73497702 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0023others(40): Show | 43 | 200 | 0.2150 | -6 | c.571 others(21): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73518987 | AAGTTAG | A | intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197a0001c0003t0006g0198a0001c0003t0006g0199 | 3 | 200 | 0.0150 | -6 | c.107 others(23): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73526864 | AAAAAAT | A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0023a0001c0001t0002g0024a0001c0001t0002g0030others(3): Show | 6 | 200 | 0.0300 | -6 | c.-49 others(17): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4572 | chr7 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159316689 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
a0001a0006a0019 | a0001c0001a0001c0019a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0102a0001c0001t0002g0141others(4): Show | 7 | 216 | 0.0324 | -6 | c.*35 others(17): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2289 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159324625 | TACACAC | T | intron_variant | MODIFIER | HG01123.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139a0001c0001t0002g0160 | 2 | 216 | 0.0093 | -6 | c.635 others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 36/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159377858 | ATCTCCT | A | intron_variant | MODIFIER | HG02135.hp1 NA19064.hp1 |
a0009a0013 | a0009c0015a0013c0022 | a0009c0015t0002a0013c0022t0001 | a0009c0015t0002g0168a0013c0022t0001g0027 | 2 | 216 | 0.0093 | -6 | c.400 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159501135 | TATTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(48): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0071a0001c0001t0001g0072others(48): Show | 51 | 216 | 0.2361 | -6 | c.-2- others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159541259 | CTTATTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(89): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0023others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0019a0001c0001t0001g0029a0001c0001t0001g0030others(89): Show | 92 | 216 | 0.4259 | -6 | c.-3+ others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159574142 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0020others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0015others(79): Show | 82 | 216 | 0.3796 | -6 | c.-45 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01515.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0113a0001c0001t0001g0117others(5): Show | 8 | 216 | 0.0370 | -6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
| BBOF1_chr14_74014349_74071092 | 74028467 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00738.hp1 others(8): Show |
a0002a0004a0006 | a0002c0002a0004c0007a0004c0009others(1): Show | a0002c0002t0001a0002c0002t0010a0004c0007t0003others(2): Show | a0002c0002t0001g0230a0002c0002t0001g0264a0002c0002t0001g0289others(8): Show | 11 | 386 | 0.0285 | -6 | c.286 others(21): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBOF1_chr14_74014349_74071092 | 74036135 | AACCTCC | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0198a0002c0002t0001g0199a0002c0002t0001g0200others(5): Show | 8 | 386 | 0.0207 | -6 | c.495 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBOF1_chr14_74014349_74071092 | 74042873 | CACACAG | C | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02818.hp2 others(3): Show |
a0006 | a0006c0005 | a0006c0005t0003a0006c0005t0008a0006c0005t0016 | a0006c0005t0003g0374a0006c0005t0003g0375a0006c0005t0008g0378others(3): Show | 6 | 386 | 0.0155 | -6 | c.576 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBOF1_chr14_74014349_74071092 | 74042879 | GACACAC | G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp1 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0007others(2): Show | a0001c0001t0003a0003c0003t0003a0004c0007t0003others(2): Show | a0001c0001t0003g0150a0001c0001t0003g0295a0003c0003t0003g0189others(10): Show | 13 | 386 | 0.0337 | -6 | c.576 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBOX1_chr11_27035815_27132809 | 27085555 | ATCTCTC | A | intron_variant | MODIFIER | HG02083.hp1 NA18522.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0061a0001c0001t0002g0151a0001c0002t0001g0173 | 3 | 318 | 0.0094 | -6 | c.335 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BBOX1_chr11_27035815_27132809 | 27120005 | GTTTTTA | G | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG02074.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018a0001c0002t0004g0120a0001c0002t0004g0122others(11): Show | 15 | 318 | 0.0472 | -6 | c.836 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BBS12_chr4_122727704_122749939 | 122733376 | AACACAC | A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(21): Show |
a0001a0002a0010 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0006t0004a0001c0007t0008others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0091a0001c0006t0004g0012others(7): Show | 24 | 364 | 0.0659 | -6 | c.-11 others(21): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BBS2_chr16_56479385_56525024 | 56493383 | CAAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0003a0001c0007t0003a0003c0003t0003 | a0001c0001t0003g0280a0001c0007t0003g0279a0003c0003t0003g0037others(6): Show | 11 | 398 | 0.0276 | -6 | c.191 others(25): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | ||||||
| BBS2_chr16_56479385_56525024 | 56495766 | ATGTGTG | A | intron_variant | MODIFIER | HG01099.hp2 HG02622.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0003a0001c0007t0003a0002c0002t0001others(1): Show | a0001c0001t0003g0280a0001c0001t0003g0281a0001c0007t0003g0279others(2): Show | 5 | 398 | 0.0126 | -6 | c.191 others(25): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | ||||||
| BBS4_chr15_72681207_72743473 | 72702802 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(59): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0312a0001c0001t0001g0313others(59): Show | 62 | 398 | 0.1558 | -6 | c.77- others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BBS4_chr15_72681207_72743473 | 72720131 | ATTTTAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0001g0280others(4): Show | 7 | 398 | 0.0176 | -6 | c.406 others(23): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BBS5_chr2_169474494_169511655 | 169477413 | GACAACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01261.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(7): Show | a0001c0001t0001g0140a0001c0001t0002g0004a0001c0001t0002g0010others(34): Show | 48 | 398 | 0.1206 | -6 | c.-21 others(17): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 2080 | chr2 | TogoVar | ||||||
| BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG02129.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0026a0001c0001t0043others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0117a0001c0001t0002g0118others(6): Show | 15 | 398 | 0.0377 | -6 | c.386 others(23): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BBS7_chr4_121819329_121875474 | 121832009 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG03239.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0125a0001c0001t0003g0128a0001c0001t0010g0203 | 3 | 374 | 0.0080 | -6 | c.167 others(25): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
| BBS7_chr4_121819329_121875474 | 121832042 | ACAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0159a0001c0001t0001g0163others(2): Show | 6 | 374 | 0.0160 | -6 | c.167 others(25): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
| BBS7_chr4_121819329_121875474 | 121842251 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(5): Show | 11 | 374 | 0.0294 | -6 | c.130 others(25): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 12/18 | chr4 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33229348 | CTAATTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(182): Show | 185 | 268 | 0.6903 | -6 | c.443 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33257184 | ATTATAT | A | intron_variant | MODIFIER | HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041a0001c0001t0013g0042 | 2 | 268 | 0.0075 | -6 | c.443 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33332678 | AAACAAC | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(32): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(8): Show | a0001c0001t0003g0027a0001c0001t0004g0014a0001c0025t0003g0030others(32): Show | 35 | 268 | 0.1306 | -6 | c.101 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33353629 | GTTTATC | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0003g0027a0002c0002t0001g0130a0002c0002t0001g0137others(41): Show | 44 | 268 | 0.1642 | -6 | c.155 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33360715 | GGGTCCC | G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018 | a0001c0001t0001g0143a0001c0001t0001g0154a0001c0001t0001g0155others(4): Show | 7 | 268 | 0.0261 | -6 | c.169 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33389687 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp1 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0143a0001c0001t0001g0153a0001c0001t0001g0154others(31): Show | 34 | 268 | 0.1269 | -6 | c.211 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33441287 | AAAAAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02015.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(24): Show | 27 | 268 | 0.1008 | -6 | c.211 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33467027 | CTCTCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0080a0001c0001t0001g0083others(34): Show | 37 | 268 | 0.1381 | -6 | c.211 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33492811 | AGTGTGT | A | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG02055.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0011others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0011t0001others(1): Show | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0157others(10): Show | 13 | 268 | 0.0485 | -6 | c.211 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33516487 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01255.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0022 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0204others(8): Show | 11 | 268 | 0.0410 | -6 | c.229 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33542788 | TGTACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0062a0001c0001t0001g0079others(24): Show | 27 | 268 | 0.1008 | -6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33542790 | TACACAC | T | intron_variant | MODIFIER | HG01074.hp1 HG02074.hp1 HG02132.hp1 others(10): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0082a0001c0001t0001g0216a0001c0001t0005g0066others(10): Show | 13 | 268 | 0.0485 | -6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33565781 | GTATATA | G | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01106.hp1 others(9): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0050a0001c0001t0001g0065a0001c0001t0001g0099others(9): Show | 12 | 268 | 0.0448 | -6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33574684 | AACACAC | A | intron_variant | MODIFIER | NA18951.hp2 NA18961.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0142a0001c0001t0001g0201others(1): Show | 4 | 268 | 0.0149 | -6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33581095 | TGAGAGA | T | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp2 HG03669.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0161others(5): Show | 8 | 268 | 0.0299 | -6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33596257 | AACACAC | A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0010t0001 | a0001c0001t0001g0051a0001c0001t0001g0058a0001c0001t0001g0080others(5): Show | 8 | 268 | 0.0299 | -6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |