view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOSIP_chr19_49550468_49585556 | 49564453 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 304 | 0.0033 | -13 | c.-1- others(28): Show |
NOSIP | ENSG00000142546.14 | transcript | ENST00000596358.6 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
NOSTRIN_chr2_168797637_168870514 | 168841235 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
141 | 326 | 0.4325 | -13 | c.505 others(30): Show |
NOSTRIN | ENSG00000163072.16 | transcript | ENST00000317647.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NOSTRIN_chr2_168797637_168870514 | 168860680 | AAGAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0164 | 1 | 326 | 0.0031 | -13 | c.118 others(29): Show |
NOSTRIN | ENSG00000163072.16 | transcript | ENST00000317647.12 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136545988 | GCCCGCGC others(6): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01243.hp2 others(22): Show |
a0001a0009a0023 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0012a0001c0001t0019a0001c0003t0008others(10): Show | a0001c0001t0012g0001 a0001c0001t0019g0005 a0001c0003t0008g0007 others(21): Show |
25 | 324 | 0.0772 | -13 | c.-21 others(22): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 1/34 | 203 | chr9 | TogoVar | ||||||
NOTCH2NLC_chr1_149385621_149476833 | 149410915 | TAAGGAGA others(6): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 260 | 0.0039 | -13 | c.135 others(32): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
NOTCH2NLC_chr1_149385621_149476833 | 149417097 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0023 | a0023c0037 | a0023c0037t0032 | a0023c0037t0032g0242 | 1 | 260 | 0.0039 | -13 | c.136 others(32): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120745132 | AACAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18980.hp1 NA19001.hp1 NA19006.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0098 others(2): Show |
5 | 164 | 0.0305 | -13 | c.74- others(30): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120033410 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 168 | 0.0060 | -13 | c.74- others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15171612 | CTCAGCCT others(6): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0040 | a0007c0040t0013 | a0007c0040t0013g0305 | 1 | 340 | 0.0029 | -13 | c.473 others(30): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NOTO_chr2_73197574_73217513 | 73200115 | CTTTTTCT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(78): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0037 others(30): Show |
81 | 380 | 0.2132 | -13 | c.-25 others(24): Show |
NOTO | ENSG00000214513.4 | transcript | ENST00000398468.4 | protein_coding | 2458 | chr2 | TogoVar | |||||||
NOVA1_chr14_26438090_26603033 | 26545943 | TCAGTAGT others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0212 | 1 | 244 | 0.0041 | -13 | c.280 others(32): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
NOVA2_chr19_45928734_45978865 | 45964347 | TTTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0257 | 1 | 402 | 0.0025 | -13 | c.86- others(28): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89325115 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0152 | 1 | 288 | 0.0035 | -13 | c.*16 others(24): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 18/18 | 1628 | chr11 | TogoVar | ||||||
NOXO1_chr16_1973917_1986469 | 1981574 | GTCCTGCC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01069.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0017others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0017t0002others(1): Show | a0001c0001t0002g0002 a0001c0004t0002g0005 a0001c0017t0002g0030 others(1): Show |
26 | 442 | 0.0588 | -13 | c.-40 others(22): Show |
NOXO1 | ENSG00000196408.12 | transcript | ENST00000356120.9 | protein_coding | 106 | chr16 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47030636 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(130): Show |
135 | 418 | 0.3230 | -13 | c.359 others(30): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS1_chr19_47014837_47050775 | 47037338 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG03225.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0247 a0001c0004t0001g0361 |
2 | 418 | 0.0048 | -13 | c.688 others(30): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100873266 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 288 | 0.0035 | -13 | c.-22 others(32): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100904152 | ATAAACAC others(6): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0007others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0002t0001g0100 others(4): Show |
7 | 288 | 0.0243 | -13 | c.-22 others(28): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100926937 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA21309.hp2 |
a0001a0006 | a0001c0001a0006c0019 | a0001c0001t0005a0006c0019t0012 | a0001c0001t0005g0090 a0006c0019t0012g0237 |
2 | 288 | 0.0069 | -13 | c.181 others(30): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100979494 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0022 | 1 | 288 | 0.0035 | -13 | c.148 others(32): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32941262 | CCTTCCCC others(6): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 92 | 0.0109 | -13 | c.50+ others(28): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33083178 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00738.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0006g0021 others(20): Show |
23 | 92 | 0.2500 | -13 | c.140 others(32): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33328446 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG02897.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0030a0001c0001t0041others(1): Show | a0001c0001t0024g0009 a0001c0001t0030g0029 a0001c0001t0041g0079 others(1): Show |
4 | 92 | 0.0435 | -13 | c.386 others(32): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33652883 | TTCACCCC others(6): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0003g0002 others(19): Show |
22 | 92 | 0.2391 | -13 | c.559 others(32): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33699494 | GGCGCCAG others(6): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0029 | 1 | 92 | 0.0109 | -13 | c.733 others(32): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33729197 | TTTTGAAA others(6): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0087 | 1 | 92 | 0.0109 | -13 | c.734 others(30): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 6/11 | chr14 | TogoVar | |||||||
NPAS4_chr11_66416035_66431707 | 66430885 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -13 | c.*48 others(24): Show |
NPAS4 | ENSG00000174576.11 | transcript | ENST00000311034.7 | protein_coding | 4179 | chr11 | TogoVar | |||||||
NPBWR2_chr20_64098802_64112565 | 64105712 | TGGTGGTG others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01943.hp1 HG02451.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0009a0001c0002t0014others(3): Show | a0001c0002t0008g0008 a0001c0002t0009g0010 a0001c0002t0014g0013 others(3): Show |
21 | 355 | 0.0592 | -13 | c.*10 others(22): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 105 | chr20 | TogoVar | ||||||
NPC1L1_chr7_44507535_44546330 | 44510232 | TGTGTGTG others(6): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 320 | 0.0031 | -13 | c.*32 others(24): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2302 | chr7 | TogoVar | |||||||
NPC2_chr14_74474940_74498305 | 74485294 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 410 | 0.0024 | -13 | c.191 others(28): Show |
NPC2 | ENSG00000119655.11 | transcript | ENST00000555619.6 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137036833 | GCTGCATG others(6): Show |
G | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 402 | 0.0025 | -13 | c.*29 others(24): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 2629 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137042559 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 402 | 0.0025 | -13 | c.259 others(28): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
NPEPL1_chr20_58687800_58720844 | 58691693 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp1 others(8): Show |
a0001a0003 | a0001c0004a0003c0013 | a0001c0004t0003a0003c0013t0003 | a0001c0004t0003g0004 a0001c0004t0003g0077 a0001c0004t0003g0079 others(2): Show |
11 | 398 | 0.0276 | -13 | c.-12 others(24): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 1106 | chr20 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977668 | ATGCCGGC others(6): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 208 | 0.0048 | -13 | c.279 others(28): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5992060 | AGCCCCCG others(6): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02922.hp2 |
a0001a0013 | a0001c0002a0013c0021 | a0001c0002t0001a0013c0021t0001 | a0001c0002t0001g0201 a0013c0021t0001g0202 |
2 | 208 | 0.0096 | -13 | c.-39 others(28): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0010others(29): Show | a0002c0002a0002c0126a0002c0127others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(52): Show | a0002c0002t0001g0008 a0002c0002t0001g0083 a0002c0002t0001g0095 others(144): Show |
149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29389668 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 HG03486.hp1 |
a0001a0013a0073 | a0001c0001a0013c0019a0073c0149 | a0001c0001t0002a0013c0019t0001a0073c0149t0002 | a0001c0001t0002g0264 a0013c0019t0001g0187 a0073c0149t0002g0304 |
3 | 428 | 0.0070 | -13 | c.545 others(28): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 5/7 | chr16 | TogoVar | |||||||
NPIPB12_chr16_29478534_29511408 | 29484475 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG01346.hp1 HG01981.hp1 HG02004.hp2 others(3): Show |
a0003a0004a0010 | a0003c0003a0003c0008a0004c0004others(1): Show | a0003c0003t0001a0003c0008t0001a0004c0004t0002others(1): Show | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 others(3): Show |
6 | 21 | 0.2857 | -13 | c.198 others(22): Show |
p.Glu others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2663/3605 | 1988/2787 | 663/928 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30219034 | AAACACAC others(6): Show |
A | downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 145 | 0.0069 | -13 | c.*39 others(24): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 3862 | chr16 | TogoVar | |||||||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0004a0001c0018others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(72): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(120): Show |
123 | 145 | 0.8483 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30238672 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068 | 1 | 145 | 0.0069 | -13 | c.121 others(30): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB2_chr16_11922373_11947045 | 11932775 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 414 | 0.0024 | -13 | c.488 others(28): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/7 | chr16 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0008a0013others(18): Show | a0004c0004a0004c0027a0004c0089others(21): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(21): Show | a0004c0004t0001g0105 a0004c0004t0001g0129 a0004c0004t0001g0146 others(37): Show |
41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21844410 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19007.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0183 | 1 | 204 | 0.0049 | -13 | c.250 others(28): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21849446 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 NA18906.hp1 |
a0012a0070 | a0012c0011a0070c0030 | a0012c0011t0001a0070c0030t0001 | a0012c0011t0001g0002 a0070c0030t0001g0068 |
3 | 204 | 0.0147 | -13 | c.121 others(30): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB5_chr16_22505891_22541535 | 22535571 | CGAGCGTC others(6): Show |
C | frameshift_variant | HIGH | HG00323.hp1 HG00621.hp1 HG01496.hp2 others(1): Show |
a0005a0008a0013others(1): Show | a0005c0027a0008c0003a0013c0023others(1): Show | a0005c0027t0001a0008c0003t0010a0013c0023t0012others(1): Show | a0005c0027t0001g0009 a0008c0003t0010g0043 a0013c0023t0012g0010 others(1): Show |
4 | 47 | 0.0851 | -13 | c.260 others(22): Show |
p.Glu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5514/6463 | 2603/3402 | 868/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
NPIPB6_chr16_28337517_28368508 | 28341281 | TAAAAAAA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(20): Show |
a0002a0007a0008others(2): Show | a0002c0002a0002c0023a0007c0030others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0023t0001others(4): Show | a0002c0002t0001g0166 a0002c0002t0002g0019 a0002c0002t0002g0021 others(18): Show |
23 | 361 | 0.0637 | -13 | c.*13 others(24): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 1235 | chr16 | TogoVar | |||||||
NPIPB7_chr16_28451329_28477336 | 28452498 | CACACACA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19077.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0114 | 1 | 382 | 0.0026 | -13 | c.*39 others(24): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 3830 | chr16 | TogoVar | |||||||
NPIPB7_chr16_28451329_28477336 | 28455090 | TAAAAAAA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp1 HG03453.hp1 HG03540.hp1 |
a0010a0017a0018 | a0010c0012a0017c0016a0018c0019 | a0010c0012t0002a0017c0016t0005a0018c0019t0021 | a0010c0012t0002g0080 a0017c0016t0005g0100 a0018c0019t0021g0108 |
3 | 382 | 0.0079 | -13 | c.*13 others(24): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1238 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28659921 | GATTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02698.hp2 NA18941.hp1 others(2): Show |
a0002a0017a0033 | a0002c0003a0017c0032a0033c0029 | a0002c0003t0002a0017c0032t0002a0033c0029t0002 | a0002c0003t0002g0292 a0002c0003t0002g0303 a0002c0003t0002g0304 others(2): Show |
5 | 351 | 0.0143 | -13 | c.*12 others(24): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 1178 | chr16 | TogoVar |