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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOTCH1_chr9_136489433_136551048 | 136535983 | T | TGGTGGGT others(91): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 259 | 0.0039 | 98 | c.140 others(115): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89486697 | C | CATATATA others(91): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0019 | a0001c0001t0015g0051 a0001c0001t0019g0050 |
2 | 170 | 0.0118 | 98 | c.153 others(115): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NPEPL1_chr20_58687800_58720844 | 58690814 | C | CCAACAGT others(91): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 396 | 0.0025 | 98 | c.-20 others(109): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 1985 | chr20 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51872984 | A | ATAATGAT others(91): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0072 |
2 | 242 | 0.0083 | 98 | c.341 others(115): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRG3_chr10_81870194_82992178 | 82132525 | G | GATATATA others(91): Show |
intron_variant | MODIFIER | HG02818.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0003 | a0001c0001t0005g0044 a0001c0005t0003g0005 |
2 | 22 | 0.0909 | 98 | c.824 others(119): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15030905 | C | CACATTCC others(91): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 298 | 0.0034 | 98 | c.-45 others(119): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15030950 | A | ATCACCAC others(91): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0275 | 1 | 322 | 0.0031 | 98 | c.-45 others(119): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(91): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG01943.hp1 others(7): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0330 others(7): Show |
10 | 175 | 0.0571 | 98 | c.-45 others(119): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRSN1_chr6_24121215_24152530 | 24150883 | G | GAAAGAAA others(91): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0044 | 1 | 382 | 0.0026 | 98 | c.*49 others(109): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3354 | chr6 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131680983 | G | GTCTGTGT others(91): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01255.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(24): Show |
27 | 85 | 0.3176 | 98 | c.83- others(117): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131928742 | A | ACTGTTTG others(91): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0083 a0001c0002t0003g0016 a0001c0002t0003g0073 |
3 | 86 | 0.0349 | 98 | c.167 others(117): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132070886 | A | AAACACGT others(91): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0004g0029 |
2 | 84 | 0.0238 | 98 | c.168 others(117): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879284 | A | ATGTACGT others(91): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 356 | 0.0028 | 98 | c.360 others(113): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUCB2_chr11_17271739_17337211 | 17332767 | C | CAATAAAA others(91): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 358 | 0.0028 | 98 | c.*13 others(109): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 557 | chr11 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56739951 | C | CATCCCCA others(91): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0034a0001c0003t0002 | a0001c0001t0034g0196 a0001c0003t0002g0254 |
2 | 375 | 0.0053 | 98 | c.-14 others(115): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | chr16 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808471 | C | CTATATAA others(91): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01175.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0004a0003c0015t0004 | a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0229 others(4): Show |
7 | 333 | 0.0210 | 98 | c.489 others(115): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949071 | G | GGCCTCCT others(91): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 143 | 0.0070 | 98 | c.360 others(117): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCACCCCC others(91): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 27 | 0.0370 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 27 | 0.0370 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01070.hp1 others(43): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 others(41): Show |
46 | 72 | 0.6389 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(99): Show |
a0001a0005a0006 | a0001c0001a0005c0009a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0083 others(96): Show |
102 | 128 | 0.7969 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0181 a0001c0001t0004g0100 a0001c0001t0004g0118 others(1): Show |
4 | 30 | 0.1333 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0048 others(42): Show |
48 | 74 | 0.6486 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCC others(91): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0035 | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0024 others(5): Show |
11 | 37 | 0.2973 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515579 | C | CGGGGGGC others(91): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0165 a0001c0001t0004g0011 a0001c0001t0004g0163 |
4 | 285 | 0.0140 | 98 | c.891 others(115): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ODAD3_chr19_11415605_11440121 | 11425006 | T | TATATGTG others(91): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 344 | 0.0029 | 98 | c.964 others(113): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OPA3_chr19_45541281_45589802 | 45545982 | G | GGGATTAC others(91): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 396 | 0.0025 | 98 | c.*75 others(109): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 298 | chr19 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636401 | C | CCTCTCCC others(91): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 182 | 0.0055 | 98 | c.-27 others(115): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950358 | T | TACATGCA others(91): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 174 | 0.0057 | 98 | c.-30 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2881 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950358 | T | TACATGCA others(91): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(84): Show |
123 | 296 | 0.4155 | 98 | c.-30 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2881 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950418 | T | TACATGCA others(91): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA18955.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 |
3 | 301 | 0.0100 | 98 | c.-29 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2821 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950488 | T | TAAGCACA others(91): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0038 | 1 | 292 | 0.0034 | 98 | c.-29 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2751 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950488 | T | TGAGCACA others(91): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01070.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0039 others(29): Show |
44 | 335 | 0.1313 | 98 | c.-29 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2751 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950488 | T | TGAGCACA others(91): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0224 | 1 | 292 | 0.0034 | 98 | c.-29 others(109): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2751 | chr16 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106285864 | T | TGAATGTG others(91): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0014 | a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0074 others(3): Show |
6 | 117 | 0.0513 | 98 | c.-13 others(119): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXTR_chr3_8745381_8774613 | 8773271 | T | TAATCTAT others(91): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0087 | 1 | 469 | 0.0021 | 98 | c.-42 others(109): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3659 | chr3 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680315 | A | ATCCTCCA others(91): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(127): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 others(122): Show |
130 | 312 | 0.4167 | 98 | c.106 others(115): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680315 | A | ATCCTCCA others(91): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 183 | 0.0055 | 98 | c.106 others(115): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680315 | A | ATCCTCCA others(91): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 183 | 0.0055 | 98 | c.106 others(115): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680497 | G | GTCCTCCA others(91): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0032 a0002c0002t0001g0168 |
2 | 346 | 0.0058 | 98 | c.106 others(115): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43014321 | T | TACACACA others(91): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 268 | 0.0037 | 98 | c.-78 others(113): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(91): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0006 | 1 | 40 | 0.0250 | 98 | c.196 others(119): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793354 | C | CATATATA others(91): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0094 | 1 | 123 | 0.0081 | 98 | c.196 others(119): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(91): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 108 | 0.0093 | 98 | c.181 others(115): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(91): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18978.hp2 NA18983.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0012 | a0001c0001t0002g0136 a0001c0001t0002g0137 a0004c0004t0012g0135 |
3 | 110 | 0.0273 | 98 | c.181 others(115): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(91): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158 a0001c0001t0002g0157 |
2 | 109 | 0.0183 | 98 | c.181 others(115): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(91): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03540.hp1 NA18970.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0005a0004c0004t0004a0004c0004t0018others(1): Show | a0001c0001t0005g0072 a0004c0004t0004g0071 a0004c0004t0018g0193 others(1): Show |
4 | 111 | 0.0360 | 98 | c.181 others(115): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(91): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0194 others(1): Show |
5 | 112 | 0.0446 | 98 | c.181 others(115): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380575 | G | GTATATAT others(91): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 25 | 0.0400 | 98 | c.263 others(119): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122534409 | A | AGGGAGTC others(91): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0056 | 1 | 434 | 0.0023 | 98 | c.208 others(117): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 10/10 | chr3 | TogoVar |