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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBEAL1_chr2_203009875_203230194 | 203141366 | A | ATTATTAT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0091 | 1 | 292 | 0.0034 | 18 | c.484 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203141366 | A | ATTATTAT others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 292 | 0.0034 | 18 | c.484 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203141366 | A | ATTATTTT others(11): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 292 | 0.0034 | 18 | c.484 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203180933 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01496.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0273a0001c0004t0005g0278a0001c0004t0005g0281 | 3 | 292 | 0.0103 | 18 | c.659 others(35): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL2_chr3_46974666_47014701 | 47002084 | T | TGCAGCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18939.hp2 | a0023 | a0023c0036 | a0023c0036t0001 | a0023c0036t0001g0059 | 1 | 360 | 0.0028 | 18 | c.495 others(27): Show |
p.Ala others(15): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 31/54 | 5172/8842 | 4976/8265 | 1659/2754 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
NBEA_chr13_34937270_35677736 | 35010739 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0094 | 1 | 122 | 0.0082 | 18 | c.295 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35010741 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0007 | a0007c0023 | a0007c0023t0004 | a0007c0023t0004g0016 | 1 | 122 | 0.0082 | 18 | c.295 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35010741 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0022 | a0002c0022t0004 | a0002c0022t0004g0017 | 1 | 122 | 0.0082 | 18 | c.295 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35476296 | C | CCTGCTGC others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0006 | a0001c0001t0001g0083a0006c0010t0006g0039 | 2 | 122 | 0.0164 | 18 | c.658 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35539915 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 122 | 0.0082 | 18 | c.658 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35541725 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 122 | 0.0082 | 18 | c.658 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35563131 | G | GGAGATAG others(11): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03471.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0002a0001c0003t0001a0001c0013t0003 | a0001c0001t0002g0068a0001c0003t0001g0005a0001c0013t0003g0084 | 3 | 122 | 0.0246 | 18 | c.692 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 44/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35585131 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0008 | a0008c0015 | a0008c0015t0017 | a0008c0015t0017g0112 | 1 | 122 | 0.0082 | 18 | c.717 others(37): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 46/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146074633 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(66): Show |
a0002a0003a0005others(42): Show | a0002c0002a0003c0003a0005c0072others(49): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(52): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(65): Show | 69 | 283 | 0.2438 | 18 | c.990 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146079369 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(57): Show |
a0002a0003a0005others(33): Show | a0002c0002a0003c0003a0005c0072others(42): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(45): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(56): Show | 60 | 283 | 0.2120 | 18 | c.917 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 73/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146084099 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG03540.hp1 others(1): Show |
a0008a0064 | a0008c0006a0064c0038 | a0008c0006t0001a0064c0038t0001 | a0008c0006t0001g0018a0008c0006t0001g0019a0008c0006t0001g0020others(1): Show | 4 | 283 | 0.0141 | 18 | c.844 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 67/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146088826 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(44): Show |
a0002a0005a0008others(28): Show | a0002c0002a0005c0072a0005c0073others(33): Show | a0002c0002t0001a0005c0072t0001a0005c0073t0001others(34): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(43): Show | 47 | 283 | 0.1661 | 18 | c.771 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 61/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146093544 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02818.hp2 HG02886.hp2 others(4): Show |
a0005a0045a0047others(4): Show | a0005c0074a0045c0041a0047c0039others(4): Show | a0005c0074t0001a0045c0041t0001a0047c0039t0001others(4): Show | a0005c0074t0001g0075a0045c0041t0001g0079a0047c0039t0001g0081others(4): Show | 7 | 283 | 0.0247 | 18 | c.697 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 55/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146098266 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02258.hp1 HG02818.hp2 |
a0048a0059a0070 | a0048c0042a0059c0047a0070c0084 | a0048c0042t0001a0059c0047t0001a0070c0084t0001 | a0048c0042t0001g0021a0059c0047t0001g0038a0070c0084t0001g0072 | 3 | 283 | 0.0106 | 18 | c.624 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 49/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146102988 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02280.hp2 HG06807.hp1 |
a0009a0057a0070 | a0009c0046a0057c0059a0070c0084 | a0009c0046t0001a0057c0059t0001a0070c0084t0001 | a0009c0046t0001g0084a0057c0059t0001g0023a0070c0084t0001g0072 | 3 | 283 | 0.0106 | 18 | c.551 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 43/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146107706 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03471.hp1 |
a0043a0061 | a0043c0034a0061c0048 | a0043c0034t0001a0061c0048t0001 | a0043c0034t0001g0086a0061c0048t0001g0024 | 2 | 283 | 0.0071 | 18 | c.478 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 37/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146109311 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0019a0054 | a0019c0064a0054c0052 | a0019c0064t0020a0054c0052t0001 | a0019c0064t0020g0080a0054c0052t0001g0085 | 2 | 283 | 0.0071 | 18 | c.450 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146112416 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0005 | a0005c0075 | a0005c0075t0001 | a0005c0075t0001g0076 | 1 | 283 | 0.0035 | 18 | c.405 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 31/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146117134 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0118 | a0118c0127 | a0118c0127t0002 | a0118c0127t0002g0110 | 1 | 283 | 0.0035 | 18 | c.331 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 25/89 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146126596 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0106 | a0106c0118 | a0106c0118t0002 | a0106c0118t0002g0092 | 1 | 283 | 0.0035 | 18 | c.185 others(35): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148112152 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19009.hp1 |
a0000 | a0000c0002 | a0000c0002t0002 | a0000c0002t0002g0301a0000c0002t0002g0340 | 2 | 388 | 0.0052 | 18 | c.163 others(37): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 15/23 | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146978260 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18952.hp1 |
a0002a0022 | a0002c0006a0022c0033 | a0002c0006t0005a0022c0033t0003 | a0002c0006t0005g0020a0022c0033t0003g0028 | 2 | 122 | 0.0164 | 18 | c.239 others(35): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF12_chr1_146933324_147001198 | 146992460 | C | CAGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0087 | 1 | 122 | 0.0082 | 18 | c.384 others(35): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148541312 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0044 | a0002c0044t0008 | a0002c0044t0008g0007 | 1 | 222 | 0.0045 | 18 | c.748 others(35): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 60/70 | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148546026 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04228.hp1 |
a0002a0066 | a0002c0044a0066c0045 | a0002c0044t0008a0066c0045t0008 | a0002c0044t0008g0007a0066c0045t0008g0006 | 2 | 222 | 0.0090 | 18 | c.675 others(35): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 54/70 | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148550734 | C | CAGACAGA others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0066 | a0066c0045 | a0066c0045t0008 | a0066c0045t0008g0006 | 1 | 222 | 0.0045 | 18 | c.602 others(35): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 48/70 | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148566552 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18964.hp1 |
a0038 | a0038c0018 | a0038c0018t0007 | a0038c0018t0007g0090a0038c0018t0007g0091 | 2 | 222 | 0.0090 | 18 | c.354 others(35): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 28/70 | chr1 | TogoVar | ||||||
NBPF15_chr1_144416390_144466669 | 144416912 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0210 | 2 | 394 | 0.0051 | 18 | c.*61 others(29): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 4477 | chr1 | TogoVar | ||||||
NBPF15_chr1_144416390_144466669 | 144428178 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0016 | a0016c0038 | a0016c0038t0015 | a0016c0038t0015g0036 | 1 | 394 | 0.0025 | 18 | c.104 others(35): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 15/21 | chr1 | TogoVar | ||||||
NBPF15_chr1_144416390_144466669 | 144463598 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 NA18942.hp2 NA18998.hp2 |
a0001a0002 | a0001c0002a0002c0042 | a0001c0002t0001a0002c0042t0008 | a0001c0002t0001g0190a0001c0002t0001g0216a0002c0042t0008g0034 | 3 | 394 | 0.0076 | 18 | c.-31 others(29): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 1930 | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0015a0173 | a0015c0036a0015c0192a0173c0191 | a0015c0036t0006a0015c0192t0006a0173c0191t0006 | a0015c0036t0006g0004a0015c0192t0006g0270a0173c0191t0006g0271 | 4 | 276 | 0.0145 | 18 | c.734 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG03942.hp2 others(2): Show |
a0061a0114a0159others(2): Show | a0061c0187a0114c0137a0159c0189others(2): Show | a0061c0187t0001a0114c0137t0001a0159c0189t0003others(2): Show | a0061c0187t0001g0173a0114c0137t0001g0133a0159c0189t0003g0191others(2): Show | 5 | 276 | 0.0181 | 18 | c.734 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02738.hp2 |
a0019a0071 | a0019c0021a0071c0102 | a0019c0021t0001a0071c0102t0001 | a0019c0021t0001g0098a0071c0102t0001g0143 | 2 | 276 | 0.0073 | 18 | c.734 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01081.hp1 others(6): Show |
a0032a0037a0040others(4): Show | a0032c0012a0037c0016a0040c0218others(4): Show | a0032c0012t0002a0037c0016t0002a0040c0218t0002others(4): Show | a0032c0012t0002g0232a0032c0012t0002g0266a0037c0016t0002g0256others(6): Show | 9 | 276 | 0.0326 | 18 | c.734 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0035 | a0035c0015 | a0035c0015t0002 | a0035c0015t0002g0216 | 1 | 276 | 0.0036 | 18 | c.734 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149538435 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0029 | 1 | 276 | 0.0036 | 18 | c.881 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 73/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149543186 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02300.hp1 |
a0050a0052 | a0050c0080a0052c0079 | a0050c0080t0001a0052c0079t0021 | a0050c0080t0001g0177a0052c0079t0021g0176 | 2 | 276 | 0.0073 | 18 | c.954 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 79/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149543186 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00741.hp2 others(10): Show |
a0001a0009a0021others(8): Show | a0001c0001a0009c0006a0021c0022others(8): Show | a0001c0001t0001a0009c0006t0001a0021c0022t0001others(8): Show | a0001c0001t0001g0158a0009c0006t0001g0081a0009c0006t0001g0082others(10): Show | 13 | 276 | 0.0471 | 18 | c.954 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 79/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149543186 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 |
a0037 | a0037c0016 | a0037c0016t0002 | a0037c0016t0002g0256a0037c0016t0002g0257 | 2 | 276 | 0.0073 | 18 | c.954 others(35): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 79/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149547923 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG04115.hp1 NA20129.hp1 others(1): Show |
a0167a0169a0170others(1): Show | a0167c0203a0169c0205a0170c0208others(1): Show | a0167c0203t0028a0169c0205t0004a0170c0208t0004others(1): Show | a0167c0203t0028g0269a0169c0205t0004g0209a0170c0208t0004g0202others(1): Show | 4 | 276 | 0.0145 | 18 | c.102 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 85/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149547923 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0183 | a0183c0041 | a0183c0041t0002 | a0183c0041t0002g0246 | 1 | 276 | 0.0036 | 18 | c.102 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 85/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149552660 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01516.hp1 others(1): Show |
a0161a0162a0165others(1): Show | a0161c0197a0162c0196a0165c0200others(1): Show | a0161c0197t0005a0162c0196t0005a0165c0200t0005others(1): Show | a0161c0197t0005g0214a0162c0196t0005g0213a0165c0200t0005g0212others(1): Show | 4 | 276 | 0.0145 | 18 | c.110 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 91/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF20_chr1_145285005_145430603 | 145357078 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0002 | 1 | 6 | 0.1667 | 18 | c.661 others(35): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | TogoVar | ||||||
NBPF3_chr1_21435137_21489900 | 21457346 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01358.hp2 HG01975.hp2 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0013a0004c0004t0005g0022a0004c0004t0005g0060others(4): Show | 10 | 394 | 0.0254 | 18 | c.134 others(37): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF3_chr1_21435137_21489900 | 21457352 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18992.hp1 NA18995.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0278a0003c0003t0003g0072a0003c0003t0003g0135 | 3 | 394 | 0.0076 | 18 | c.134 others(37): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |