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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAHCC1_chr17_81390457_81471331 | 81418810 | C | CGCATGTG others(17): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0118 | 1 | 332 | 0.0030 | 24 | c.179 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81418810 | C | CGCGCATG others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0010a0001c0026others(13): Show | a0001c0003t0003a0001c0010t0001a0001c0026t0003others(14): Show | a0001c0003t0003g0050a0001c0003t0003g0053a0001c0003t0003g0258others(25): Show | 29 | 332 | 0.0874 | 24 | c.179 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81418810 | C | CGCGCATG others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01884.hp1 others(20): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0012a0002c0001others(10): Show | a0001c0003t0010a0001c0012t0002a0002c0001t0001others(13): Show | a0001c0003t0010g0211a0001c0012t0002g0133a0002c0001t0001g0242others(20): Show | 23 | 332 | 0.0693 | 24 | c.179 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81432544 | A | ATCAGGCC others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01243.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0007a0001c0010a0001c0026others(8): Show | a0001c0007t0033a0001c0010t0001a0001c0026t0003others(8): Show | a0001c0007t0033g0135a0001c0010t0001g0034a0001c0026t0003g0246others(12): Show | 16 | 332 | 0.0482 | 24 | c.358 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432547 | A | AGGCCCAC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(53): Show |
a0001a0002a0003others(18): Show | a0001c0003a0001c0007a0001c0009others(31): Show | a0001c0003t0010a0001c0007t0002a0001c0007t0009others(35): Show | a0001c0003t0010g0211a0001c0007t0002g0007a0001c0007t0009g0014others(52): Show | 56 | 332 | 0.1687 | 24 | c.358 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81432570 | C | CGGGCCCA others(17): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19066.hp2 |
a0005 | a0005c0005a0005c0096 | a0005c0005t0005a0005c0096t0005 | a0005c0005t0005g0202a0005c0096t0005g0199 | 2 | 332 | 0.0060 | 24 | c.358 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81432697 | G | GCATCCCC others(17): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0066 | a0005c0066t0034 | a0005c0066t0034g0313 | 1 | 332 | 0.0030 | 24 | c.359 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81432720 | G | GCCATCCC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(51): Show | a0001c0003a0001c0007a0001c0009others(97): Show | a0001c0003t0003a0001c0003t0010a0001c0007t0002others(129): Show | a0001c0003t0003g0044a0001c0003t0003g0046a0001c0003t0003g0047others(295): Show | 302 | 332 | 0.9096 | 24 | c.359 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81432720 | G | GCCATCCC others(17): Show |
intron_variant | MODIFIER | NA19082.hp1 NA19082.hp2 |
a0002 | a0002c0016a0002c0052 | a0002c0016t0001a0002c0052t0001 | a0002c0016t0001g0052a0002c0052t0001g0045 | 2 | 332 | 0.0060 | 24 | c.359 others(41): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 298 | 0.0034 | 24 | c.128 others(41): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 298 | 0.0034 | 24 | c.128 others(41): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0218 | 1 | 298 | 0.0034 | 24 | c.128 others(41): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 298 | 0.0034 | 24 | c.128 others(41): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 298 | 0.0034 | 24 | c.128 others(41): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0039a0001c0001t0001g0040others(15): Show | 18 | 376 | 0.0479 | 24 | c.130 others(41): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81055570 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 376 | 0.0027 | 24 | c.130 others(41): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81099142 | A | ATCTTGCT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0288 | 1 | 376 | 0.0027 | 24 | c.490 others(39): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81099142 | A | ATCTTGCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(225): Show | 228 | 376 | 0.6064 | 24 | c.490 others(39): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81099142 | A | ATCTTGCT others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0283 | 1 | 376 | 0.0027 | 24 | c.490 others(39): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81102141 | T | TCCCACAG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(1): Show | a0001c0001t0003g0049a0001c0001t0003g0136a0001c0001t0003g0171others(7): Show | 10 | 376 | 0.0266 | 24 | c.643 others(41): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0002g0039a0001c0001t0003g0005others(3): Show | 16 | 436 | 0.0367 | 24 | c.*15 others(35): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101828383 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0006 | a0006c0013 | a0006c0013t0003 | a0006c0013t0003g0142 | 1 | 284 | 0.0035 | 24 | c.71- others(39): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101828383 | T | TTATTTAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0240 | 1 | 284 | 0.0035 | 24 | c.71- others(39): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101847736 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0092 | 1 | 284 | 0.0035 | 24 | c.470 others(41): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101947309 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 HG02738.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0048a0001c0001t0001g0057others(11): Show | 14 | 284 | 0.0493 | 24 | c.120 others(45): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101986899 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 284 | 0.0035 | 24 | c.120 others(45): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102007144 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG01175.hp2 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0005others(1): Show | a0001c0001t0001a0003c0004t0001a0003c0004t0003others(2): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0153others(12): Show | 15 | 284 | 0.0528 | 24 | c.120 others(45): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102007150 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 284 | 0.0035 | 24 | c.120 others(45): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BAP1_chr3_52396008_52415008 | 52410180 | A | ACGGGACG others(17): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 348 | 0.0029 | 24 | c.-30 others(33): Show |
BAP1 | ENSG00000163930.10 | transcript | ENST00000460680.6 | protein_coding | 173 | chr3 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751151 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0126 | 1 | 362 | 0.0028 | 24 | c.167 others(43): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90709236 | G | GAAGAAAG others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(37): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(20): Show | 40 | 446 | 0.0897 | 24 | c.*30 others(35): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2302 | chr1 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0002g0017 | 5 | 446 | 0.0112 | 24 | c.-23 others(35): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG04115.hp1 NA18956.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0003g0197a0001c0001t0005g0339a0001c0001t0011g0314others(3): Show | 7 | 370 | 0.0189 | 24 | c.-74 others(33): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 65000934 | C | CTCTTTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0083 | 6 | 404 | 0.0149 | 24 | c.-40 others(35): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 3964 | chr11 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01952.hp2 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0094others(3): Show | 8 | 462 | 0.0173 | 24 | c.*53 others(35): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212687967 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG01496.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065a0001c0001t0001g0084a0001c0001t0001g0108others(7): Show | 13 | 462 | 0.0281 | 24 | c.196 others(40): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75550066 | T | TTTTCTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02055.hp1 HG03942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0035others(3): Show | 6 | 376 | 0.0160 | 24 | c.*33 others(35): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3075 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0161 | 1 | 380 | 0.0026 | 24 | c.183 others(41): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832209 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02273.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0159a0001c0002t0003g0164a0001c0002t0003g0172others(1): Show | 4 | 380 | 0.0105 | 24 | c.393 others(41): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 380 | 0.0026 | 24 | c.393 others(41): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA19012.hp2 NA19058.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079a0001c0002t0002g0085 | 2 | 380 | 0.0053 | 24 | c.393 others(41): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107a0001c0002t0002g0113 | 2 | 380 | 0.0053 | 24 | c.393 others(41): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 200 | 0.0050 | 24 | c.571 others(41): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73519663 | A | AAAGCCTG others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197 | 1 | 200 | 0.0050 | 24 | c.107 others(41): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73526868 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189a0001c0001t0003g0190 | 2 | 200 | 0.0100 | 24 | c.-49 others(35): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4576 | chr7 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0071 | a0001c0002t0071g0100 | 1 | 316 | 0.0032 | 24 | c.*95 others(33): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | |||||
BAZ2B_chr2_159313979_159621548 | 159423314 | T | TAAACAAA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 | 1 | 216 | 0.0046 | 24 | c.246 others(43): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 13/36 | chr2 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18972.hp1 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0192a0001c0001t0001g0233others(1): Show | 4 | 318 | 0.0126 | 24 | c.220 others(39): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122748851 | T | TACATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0007 | a0001c0007t0005a0001c0007t0008 | a0001c0007t0005g0023a0001c0007t0005g0046a0001c0007t0005g0077others(2): Show | 9 | 364 | 0.0247 | 24 | c.*48 others(35): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 3913 | chr4 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 398 | 0.0025 | 24 | c.*44 others(35): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar |