| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(449): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0004 |
3 | 290 | 0.0103 | 456 | c.972 others(471): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(449): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0013 | a0013c0006 | a0013c0006t0057 | a0013c0006t0057g0022 | 1 | 208 | 0.0048 | 456 | c.-97 others(473): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074404 | T | TTATATTT others(449): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 208 | 0.0048 | 456 | c.-97 others(473): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074404 | T | TTATATTT others(449): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 208 | 0.0048 | 456 | c.-97 others(473): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240623462 | T | TGCAAACA others(449): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0202 | 1 | 400 | 0.0025 | 456 | c.-21 others(467): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2017 | chr2 | TogoVar | |||||||
| GSE1_chr16_85608322_85681200 | 85653206 | C | CCCCTCCT others(449): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0007 | a0004c0007t0052 | a0004c0007t0052g0076 | 1 | 290 | 0.0035 | 456 | c.427 others(473): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41527289 | A | ACACCCTC others(449): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02895.hp2 others(6): Show |
a0001a0006a0011others(2): Show | a0001c0044a0006c0012a0011c0013others(2): Show | a0001c0044t0024a0006c0012t0010a0006c0012t0042others(5): Show | a0001c0044t0024g0042 a0006c0012t0010g0037 a0006c0012t0042g0052 others(6): Show |
9 | 134 | 0.0672 | 456 | c.520 others(475): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41527289 | A | ACACCCTC others(449): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG03225.hp1 others(3): Show |
a0008a0009 | a0008c0009a0009c0010 | a0008c0009t0016a0008c0009t0046a0009c0010t0004others(2): Show | a0008c0009t0016g0079 a0008c0009t0016g0082 a0008c0009t0046g0086 others(3): Show |
6 | 134 | 0.0448 | 456 | c.520 others(475): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41544876 | C | CCACTACC others(449): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0006 | a0004c0006t0041 | a0004c0006t0041g0091 | 1 | 134 | 0.0075 | 456 | c.520 others(477): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCTTCCC others(449): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 a0001c0002t0001g0106 |
2 | 350 | 0.0057 | 456 | c.485 others(473): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(449): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0097 | 1 | 274 | 0.0037 | 456 | c.804 others(473): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TACGGAAT others(449): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 323 | 0.0031 | 456 | c.-21 others(467): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(449): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0045a0001c0003t0003a0001c0004t0058others(10): Show | a0001c0001t0045g0048 a0001c0003t0003g0183 a0001c0003t0003g0200 others(11): Show |
14 | 300 | 0.0467 | 456 | c.203 others(473): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
| KCNK10_chr14_88175108_88328269 | 88310229 | G | GATATACC others(449): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033 | 1 | 334 | 0.0030 | 456 | c.52+ others(473): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
| KCNK10_chr14_88175108_88328269 | 88310229 | G | GATATACC others(449): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0100 | a0001c0006t0100g0021 | 1 | 334 | 0.0030 | 456 | c.52+ others(473): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
| KCNT2_chr1_196220779_196613440 | 196437080 | T | TATAAATA others(449): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0081 | 1 | 136 | 0.0074 | 456 | c.639 others(473): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
| KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(449): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 NA18982.hp2 |
a0001 | a0001c0009a0001c0022 | a0001c0009t0020a0001c0009t0039a0001c0022t0020 | a0001c0009t0020g0369 a0001c0009t0039g0368 a0001c0022t0020g0367 |
3 | 382 | 0.0079 | 456 | c.205 others(475): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
| KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(449): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0004 | a0004c0022 | a0004c0022t0004 | a0004c0022t0004g0405 | 1 | 414 | 0.0024 | 456 | c.480 others(471): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
| KIF3B_chr20_32272651_32340011 | 32322700 | T | TTATATAT others(449): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 242 | 0.0041 | 456 | c.174 others(475): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| KISS1_chr1_204185341_204201491 | 204195224 | T | TACACACA others(449): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 400 | 0.0025 | 456 | c.-39 others(473): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
| LAMC1_chr1_183018420_183150592 | 183149512 | C | CACACACC others(449): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 NA19058.hp1 NA19070.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 |
3 | 308 | 0.0097 | 456 | c.*67 others(467): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3921 | chr1 | TogoVar | |||||||
| LAMC1_chr1_183018420_183150592 | 183149589 | T | TCACATCC others(449): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0301 | 1 | 308 | 0.0033 | 456 | c.*67 others(467): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3998 | chr1 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(449): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004 | 1 | 260 | 0.0039 | 456 | c.125 others(473): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
| LINGO2_chr9_27932617_29218601 | 28189537 | G | GAGGAAGG others(449): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 62 | 0.0161 | 456 | c.-36 others(477): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(449): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0019 | 1 | 290 | 0.0035 | 456 | c.129 others(473): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186119 | G | GGAGGAAC others(449): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 350 | 0.0029 | 456 | c.*30 others(467): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2870 | chr16 | TogoVar | |||||||
| MAN1B1_chr9_137081985_137114183 | 137102439 | A | ACTTGCAG others(449): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02922.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 3 | 404 | 0.0074 | 456 | c.125 others(473): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(449): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 191 | 0.0052 | 456 | c.343 others(473): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(449): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0131 |
3 | 191 | 0.0157 | 456 | c.343 others(473): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MLIP_chr6_54106443_54271280 | 54251553 | A | ATTATATA others(449): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03130.hp1 HG03139.hp1 |
a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0008 a0008c0006t0002g0009 a0008c0006t0002g0010 |
3 | 248 | 0.0121 | 456 | c.292 others(475): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
| MPG_chr16_73225_90846 | 81629 | A | ACTGACCC others(449): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 442 | 0.0023 | 456 | c.301 others(473): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MPG_chr16_73225_90846 | 81857 | G | GCTGACCC others(449): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02056.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0228 |
3 | 442 | 0.0068 | 456 | c.301 others(473): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43500173 | A | AGGTGGCA others(449): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0113 | 1 | 250 | 0.0040 | 456 | c.748 others(473): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 769194 | G | GCCCCCGC others(449): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0034 | a0002c0034t0003 | a0002c0034t0003g0259 | 1 | 388 | 0.0026 | 456 | c.*46 others(465): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 333 | chr16 | TogoVar | |||||||
| MTERF3_chr8_96234402_96266610 | 96250618 | A | AAGGAAGA others(449): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0169 | 1 | 294 | 0.0034 | 456 | c.677 others(471): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(449): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 384 | 0.0026 | 456 | c.160 others(473): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(449): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 456 | c.-28 others(467): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
| MYO1F_chr19_8515778_8582442 | 8543645 | G | GTGGTGGT others(449): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0339 | 1 | 342 | 0.0029 | 456 | c.152 others(473): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
2 | 439 | 0.0046 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 3 | 439 | 0.0068 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(10): Show |
56 | 439 | 0.1276 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 439 | 0.0046 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
2 | 439 | 0.0046 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 439 | 0.0023 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0029 others(1): Show |
5 | 439 | 0.0114 | 456 | c.*28 others(467): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
| NEXN_chr1_77883624_77948895 | 77887912 | T | TTTCTTCT others(449): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 268 | 0.0037 | 456 | c.-90 others(465): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 711 | chr1 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79504807 | G | GGGAAGAG others(449): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18986.hp1 NA18995.hp2 |
a0002a0012 | a0002c0002a0012c0041 | a0002c0002t0002a0002c0002t0060a0012c0041t0006 | a0002c0002t0002g0061 a0002c0002t0060g0070 a0012c0041t0006g0102 |
3 | 322 | 0.0093 | 456 | c.278 others(477): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(449): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0190 | 1 | 362 | 0.0028 | 456 | c.-75 others(475): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(449): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 356 | 0.0028 | 456 | c.91+ others(469): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NPRL3_chr16_80386_143673 | 81629 | A | ACTGACCC others(449): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0341 | 1 | 350 | 0.0029 | 456 | c.*50 others(467): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3756 | chr16 | TogoVar |