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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAIP_chr5_70963166_71030339 | 70966397 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02615.hp1 others(12): Show |
a0002a0006a0007 | a0002c0002a0002c0011a0006c0013others(1): Show | a0002c0002t0008a0002c0002t0009a0002c0002t0013others(9): Show | a0002c0002t0008g0122a0002c0002t0008g0123a0002c0002t0009g0126others(12): Show | 15 | 141 | 0.1064 | -7 | c.*37 others(18): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 1768 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70978140 | TATATATA | T | intron_variant | MODIFIER | HG00544.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0104 | 2 | 141 | 0.0142 | -7 | c.344 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 13/16 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70978142 | TATATATA | T | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01106.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0034others(24): Show | 27 | 141 | 0.1915 | -7 | c.344 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 13/16 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70978143 | ATATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG02040.hp2 others(9): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0028a0001c0004t0002others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0043others(9): Show | 12 | 141 | 0.0851 | -7 | c.344 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 13/16 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70978145 | ATATATTT | A | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0006a0002c0002 | a0001c0004t0005a0001c0004t0016a0001c0006t0001others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0018a0001c0004t0016g0011others(2): Show | 5 | 141 | 0.0355 | -7 | c.344 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 13/16 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70980554 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0021others(75): Show | 78 | 141 | 0.5532 | -7 | c.327 others(24): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 70989820 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp1 others(5): Show |
a0001a0009 | a0001c0004a0009c0016 | a0001c0004t0002a0001c0004t0011a0009c0016t0002 | a0001c0004t0002g0125a0001c0004t0002g0131a0001c0004t0002g0132others(5): Show | 8 | 141 | 0.0567 | -7 | c.102 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101378790 | GAATAAGT | G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01981.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0003g0015others(9): Show | 12 | 176 | 0.0682 | -7 | c.292 others(22): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 3/43 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107269913 | ATTTTTTT | A | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0001t0086a0001c0002t0037others(2): Show | a0001c0001t0054g0045a0001c0001t0086g0117a0001c0002t0037g0073others(2): Show | 5 | 128 | 0.0391 | -7 | c.916 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107299465 | TAATAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0002g0047others(46): Show | 49 | 128 | 0.3828 | -7 | c.916 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107492035 | TTTTTTTG | T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0053a0001c0001t0060a0001c0001t0062others(4): Show | a0001c0001t0053g0066a0001c0001t0060g0064a0001c0001t0062g0027others(4): Show | 7 | 128 | 0.0547 | -7 | c.916 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107505065 | AGAGAAAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0059a0001c0001t0063others(4): Show | a0001c0001t0031g0017a0001c0001t0059g0036a0001c0001t0063g0034others(4): Show | 7 | 128 | 0.0547 | -7 | c.916 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107555439 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp2 HG02056.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0002g0047a0001c0001t0005g0046a0001c0001t0008g0109others(10): Show | 13 | 128 | 0.1016 | -7 | c.915 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107800645 | GATATATA | G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0063a0001c0001t0066others(3): Show | a0001c0001t0010g0035a0001c0001t0063g0034a0001c0001t0066g0028others(3): Show | 6 | 128 | 0.0469 | -7 | c.915 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF2_chrX_69499326_69537508 | 69504782 | CGGCGCGG | C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0011 | a0001c0001t0005g0014a0001c0001t0005g0146a0001c0001t0007g0043others(1): Show | 10 | 322 | 0.0311 | -7 | c.-49 others(16): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 490 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
NAMPT_chr7_106243298_106289983 | 106251972 | TTATCTAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0020 | a0001c0001t0003g0190a0001c0001t0003g0191a0001c0001t0003g0192others(18): Show | 21 | 336 | 0.0625 | -7 | c.136 others(24): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 10/10 | chr7 | TogoVar | ||||||
NAMPT_chr7_106243298_106289983 | 106267840 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG02165.hp2 HG02622.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0118a0001c0001t0001g0223others(12): Show | 21 | 336 | 0.0625 | -7 | c.743 others(22): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
NANOS1_chr10_119024714_119038730 | 119032266 | TAAATACC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0000a0001a0003others(1): Show | a0000c0002a0001c0001a0001c0008others(3): Show | a0000c0002t0002a0000c0002t0021a0001c0001t0002others(11): Show | a0000c0002t0002g0000a0000c0002t0021g0000a0001c0001t0002g0000others(11): Show | 138 | 404 | 0.3416 | -7 | c.*15 others(18): Show |
NANOS1 | ENSG00000188613.7 | transcript | ENST00000425699.3 | protein_coding | 1/1 | 1587 | chr10 | TogoVar | |||||
NAP1L3_chrX_93665930_93678578 | 93669930 | CAAAACAA | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0002c0002t0001g0000others(1): Show | 5 | 338 | 0.0148 | -7 | c.*18 others(18): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 999 | chrX | TogoVar | ||||||
NAP1L3_chrX_93665930_93678578 | 93669943 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 338 | 0.0030 | -7 | c.*18 others(18): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 986 | chrX | TogoVar | ||||||
NAP1L4_chr11_2939437_2997329 | 2981418 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0118a0001c0001t0001g0147a0001c0001t0001g0180others(6): Show | 9 | 335 | 0.0269 | -7 | c.-17 others(24): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
NAP1L4_chr11_2939437_2997329 | 2996702 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(92): Show | 116 | 335 | 0.3463 | -7 | c.-44 others(18): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 4374 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78434510 | TAAATGTC | T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0259a0001c0003t0006g0260a0001c0003t0006g0261others(4): Show | 7 | 294 | 0.0238 | -7 | c.*21 others(18): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 1457 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78538994 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(58): Show | 61 | 294 | 0.2075 | -7 | c.595 others(26): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78562031 | TCAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02148.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0004a0001c0004t0007others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0083a0001c0001t0001g0125others(23): Show | 26 | 294 | 0.0884 | -7 | c.514 others(24): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 4/13 | chr11 | TogoVar | ||||||
NASP_chr1_45579041_45623893 | 45586277 | TGTGTGTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01517.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(13): Show | 16 | 300 | 0.0533 | -7 | c.59+ others(22): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAT16_chr7_101165496_101185293 | 101168012 | TTTTTTTG | T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011a0002c0002t0002g0030a0002c0002t0002g0184others(2): Show | 6 | 422 | 0.0142 | -7 | c.*40 others(18): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 2483 | chr7 | TogoVar | ||||||
NAT16_chr7_101165496_101185293 | 101183066 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0005a0001c0001t0001g0161a0001c0001t0002g0176others(1): Show | 6 | 422 | 0.0142 | -7 | c.-30 others(18): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 2774 | chr7 | TogoVar | ||||||
NAT8L_chr4_2054327_2074089 | 2056400 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(76): Show | 267 | 378 | 0.7064 | -7 | c.-31 others(18): Show |
NAT8L | ENSG00000185818.8 | transcript | ENST00000423729.3 | protein_coding | 2926 | chr4 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201663353 | GCCCATGA | G | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0085others(3): Show | a0001c0001t0001g0128a0001c0001t0015g0071a0001c0001t0085g0194others(3): Show | 6 | 210 | 0.0286 | -7 | c.161 others(28): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19730804 | TTTCAGCC | T | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0052a0001c0053others(10): Show | a0001c0003t0026a0001c0052t0007a0001c0053t0010others(10): Show | a0001c0003t0026g0157a0001c0052t0007g0134a0001c0053t0010g0163others(10): Show | 13 | 166 | 0.0783 | -7 | c.267 others(26): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19793227 | AAAGAAAG | A | intron_variant | MODIFIER | HG01952.hp2 HG02027.hp2 HG02647.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0018a0001c0036a0001c0049others(7): Show | a0001c0018t0048a0001c0036t0046a0001c0049t0011others(7): Show | a0001c0018t0048g0141a0001c0036t0046g0123a0001c0049t0011g0008others(7): Show | 10 | 166 | 0.0602 | -7 | c.268 others(26): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20107057 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0032a0001c0033a0001c0046others(14): Show | a0001c0032t0001a0001c0033t0004a0001c0046t0014others(14): Show | a0001c0032t0001g0078a0001c0033t0004g0058a0001c0046t0014g0101others(14): Show | 17 | 166 | 0.1024 | -7 | c.684 others(24): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20122947 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02083.hp2 HG02630.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0053a0002c0011others(2): Show | a0001c0007t0010a0001c0053t0010a0002c0011t0006others(3): Show | a0001c0007t0010g0081a0001c0053t0010g0163a0002c0011t0006g0096others(3): Show | 6 | 166 | 0.0361 | -7 | c.*46 others(18): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1347 | chr11 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 78009445 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0019a0001c0001t0072others(11): Show | a0001c0001t0004g0038a0001c0001t0019g0166a0001c0001t0072g0122others(11): Show | 14 | 186 | 0.0753 | -7 | c.190 others(26): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 78025595 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01074.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0019a0001c0002t0002a0001c0002t0006others(12): Show | a0001c0001t0019g0166a0001c0002t0002g0185a0001c0002t0006g0083others(12): Show | 15 | 186 | 0.0807 | -7 | c.202 others(26): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 9/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NBAS_chr2_15161916_15566334 | 15214288 | TATAATAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01070.hp2 others(13): Show |
a0001a0003a0016others(2): Show | a0001c0001a0003c0005a0003c0010others(5): Show | a0001c0001t0001a0003c0005t0001a0003c0010t0001others(5): Show | a0001c0001t0001g0006a0003c0005t0001g0052a0003c0005t0001g0053others(13): Show | 16 | 224 | 0.0714 | -7 | c.643 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 48/51 | chr2 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15335928 | CAAAATAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0023a0002c0002others(3): Show | a0001c0001t0001a0001c0023t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0107others(10): Show | 13 | 224 | 0.0580 | -7 | c.418 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 35/51 | chr2 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15410783 | GCATCTAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(11): Show |
a0005a0008a0009others(2): Show | a0005c0006a0005c0051a0008c0014others(4): Show | a0005c0006t0001a0005c0051t0001a0008c0014t0001others(4): Show | a0005c0006t0001g0136a0005c0006t0001g0138a0005c0006t0001g0139others(11): Show | 14 | 224 | 0.0625 | -7 | c.293 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 25/51 | chr2 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56784028 | CCACCCTT | C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0154 | 1 | 160 | 0.0063 | -7 | c.*16 others(28): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203074317 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(22): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0003c0012others(2): Show | a0001c0001t0002a0003c0003t0004a0003c0003t0010others(4): Show | a0001c0001t0002g0146a0003c0003t0004g0024a0003c0003t0004g0026others(22): Show | 25 | 292 | 0.0856 | -7 | c.599 others(24): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203141363 | ATTATTTT | A | intron_variant | MODIFIER | HG02083.hp1 HG02523.hp2 NA18939.hp1 others(5): Show |
a0001a0008 | a0001c0001a0008c0034 | a0001c0001t0002a0008c0034t0002 | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0002g0124others(5): Show | 8 | 292 | 0.0274 | -7 | c.484 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL2_chr3_46974666_47014701 | 46977471 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0037a0001c0038others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0037t0001others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0007others(73): Show | 153 | 360 | 0.4250 | -7 | c.-23 others(18): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 2194 | chr3 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 34994198 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0004g0111a0001c0001t0004g0113a0001c0001t0004g0116others(10): Show | 13 | 122 | 0.1066 | -7 | c.295 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35010742 | ATATATAT | A | intron_variant | MODIFIER | HG03017.hp2 HG03195.hp1 HG03540.hp2 |
a0001a0002a0005 | a0001c0001a0002c0020a0005c0024 | a0001c0001t0005a0002c0020t0001a0005c0024t0004 | a0001c0001t0005g0002a0002c0020t0001g0021a0005c0024t0004g0011 | 3 | 122 | 0.0246 | -7 | c.295 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35391221 | GTTGAGAC | G | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0065a0001c0001t0001g0087a0001c0001t0005g0002 | 3 | 122 | 0.0246 | -7 | c.617 others(28): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 38/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35601761 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02647.hp2 HG02735.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0105a0001c0001t0002g0072others(7): Show | 10 | 122 | 0.0820 | -7 | c.729 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 47/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35601779 | AAAAAAAG | A | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02055.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0073a0001c0001t0001g0083others(10): Show | 13 | 122 | 0.1066 | -7 | c.729 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 47/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35648180 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0002g0054others(6): Show | 9 | 122 | 0.0738 | -7 | c.777 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 51/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBPF11_chr1_148097151_148157281 | 148132723 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(24): Show |
a0000a0001a0002others(4): Show | a0000c0010a0000c0013a0001c0001others(7): Show | a0000c0010t0001a0000c0013t0010a0001c0001t0001others(9): Show | a0000c0010t0001g0101a0000c0010t0001g0102a0000c0013t0010g0287others(24): Show | 27 | 388 | 0.0696 | -7 | c.-36 others(24): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 4/23 | chr1 | TogoVar |