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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAGGG others(274): Show |
intron_variant | MODIFIER | HG01255.hp1 HG06807.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0019a0001c0003t0018 | a0001c0001t0019g0086 a0001c0003t0018g0251 a0001c0003t0018g0252 |
3 | 256 | 0.0117 | 281 | c.169 others(302): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 107022930 | T | TAAAATCA others(274): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | 256 | 0.0078 | 281 | c.-48 others(292): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4455 | chr11 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241264041 | T | TAAGAAAG others(274): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 354 | 0.0028 | 281 | c.234 others(296): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322442 | A | AATATATA others(274): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 323 | 0.0031 | 281 | c.-26 others(292): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2527 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(274): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0033 | 1 | 282 | 0.0036 | 281 | c.623 others(298): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(274): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03704.hp1 NA18942.hp2 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0003a0002c0001a0005c0012others(1): Show | a0001c0003t0002a0002c0001t0002a0005c0012t0004others(1): Show | a0001c0003t0002g0219 a0002c0001t0002g0047 a0005c0012t0004g0065 others(1): Show |
4 | 282 | 0.0142 | 281 | c.623 others(298): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(274): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 282 | 0.0036 | 281 | c.623 others(298): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(274): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 344 | 0.0029 | 281 | c.25- others(296): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(274): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0133 |
2 | 344 | 0.0058 | 281 | c.25- others(296): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224736 | C | CCATCCAC others(274): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 292 | 0.0034 | 281 | c.121 others(300): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758776 | T | TATATATA others(274): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18971.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 a0001c0002t0001g0033 |
2 | 232 | 0.0086 | 281 | c.-67 others(300): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122439505 | C | CAAAAGAG others(274): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0337 a0001c0001t0003g0341 |
2 | 400 | 0.0050 | 281 | c.997 others(298): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120082 | A | AACAGGGA others(274): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0323 | 1 | 368 | 0.0027 | 281 | c.353 others(298): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(274): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0062 | a0062c0130 | a0062c0130t0005 | a0062c0130t0005g0079 | 1 | 186 | 0.0054 | 281 | c.450 others(298): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(274): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0263 | 1 | 308 | 0.0033 | 281 | c.*66 others(292): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13494661 | G | GAGTGAGA others(274): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 178 | 0.0056 | 281 | c.181 others(300): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858471 | G | GACTGGTG others(274): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0176 | 1 | 294 | 0.0034 | 281 | c.153 others(300): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858822 | G | GCGTGGTG others(274): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0019 | a0019c0070 | a0019c0070t0001 | a0019c0070t0001g0140 | 1 | 294 | 0.0034 | 281 | c.153 others(300): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGG others(274): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 281 | c.-41 others(292): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531174 | T | TGAAGGGC others(274): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 281 | c.-42 others(292): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4142 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(274): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 281 | c.-42 others(292): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364346 | A | ACATCTAC others(274): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0068 | 1 | 290 | 0.0035 | 281 | c.129 others(300): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364346 | A | ACATCTAC others(274): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0019 | 1 | 290 | 0.0035 | 281 | c.129 others(300): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
LRRC74A_chr14_76821408_76875304 | 76867164 | G | GGTGTGTG others(274): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0179 | 1 | 408 | 0.0025 | 281 | c.130 others(298): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186374 | G | GGAGGAAC others(274): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 350 | 0.0029 | 281 | c.*28 others(292): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2615 | chr16 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(274): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0085 | 1 | 246 | 0.0041 | 281 | c.171 others(298): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACO1_chr1_25425897_25505209 | 25457426 | T | TAAAATAT others(274): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 282 | 0.0036 | 281 | c.652 others(296): Show |
MACO1 | ENSG00000204178.11 | transcript | ENST00000374343.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP3K14_chr17_45258119_45322020 | 45306333 | T | TAAAAATT others(274): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 336 | 0.0030 | 281 | c.-21 others(300): Show |
MAP3K14 | ENSG00000006062.18 | transcript | ENST00000344686.8 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164112985 | T | TAAACAAT others(274): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02451.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0005g0074 a0001c0001t0006g0053 a0001c0001t0006g0098 others(4): Show |
7 | 102 | 0.0686 | 281 | c.-32 others(300): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164112985 | T | TAAACAAT others(274): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 102 | 0.0098 | 281 | c.-32 others(300): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
METTL22_chr16_8616698_8654654 | 8640836 | G | GGATGGAT others(274): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0180 | 1 | 390 | 0.0026 | 281 | c.773 others(296): Show |
METTL22 | ENSG00000067365.15 | transcript | ENST00000381920.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910834 | T | TTCCTTTC others(274): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 181 | 0.0055 | 281 | c.107 others(300): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MLLT3_chr9_20336669_20627499 | 20564340 | T | TAGAAAAG others(274): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0034 | 1 | 186 | 0.0054 | 281 | c.193 others(300): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
MRPL1_chr4_77857830_77957785 | 77916327 | T | TAAGAAAC others(274): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 302 | 0.0033 | 281 | c.777 others(298): Show |
MRPL1 | ENSG00000169288.18 | transcript | ENST00000315567.13 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767752 | G | GCGCGTGG others(274): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0324 | 1 | 388 | 0.0026 | 281 | c.159 others(298): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189506 | T | TTTTATAT others(274): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 330 | 0.0030 | 281 | c.-5+ others(296): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(274): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02735.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0215 |
3 | 384 | 0.0078 | 281 | c.160 others(298): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(274): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0331 | 1 | 384 | 0.0026 | 281 | c.160 others(298): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(274): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0310 | 1 | 384 | 0.0026 | 281 | c.160 others(298): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136023108 | G | GGAGGGAG others(274): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0039 a0001c0008t0027g0345 |
2 | 348 | 0.0058 | 281 | c.887 others(298): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(274): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0053 | 1 | 348 | 0.0029 | 281 | c.48+ others(296): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(274): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 346 | 0.0029 | 281 | c.373 others(298): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805669 | A | ACCCTCCC others(274): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | 281 | c.-36 others(292): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3523 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806698 | G | GCCCAGGG others(274): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0011 | a0011c0021 | a0011c0021t0002 | a0011c0021t0002g0143 | 1 | 319 | 0.0031 | 281 | c.-25 others(292): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2494 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806988 | A | ACCTCCCT others(274): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | 281 | c.-22 others(292): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2204 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(274): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0012 | 1 | 322 | 0.0031 | 281 | c.*46 others(292): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532308 | C | CCGGCAGA others(274): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0186 | 1 | 322 | 0.0031 | 281 | c.*47 others(292): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2986 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(274): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0142 | 1 | 322 | 0.0031 | 281 | c.*47 others(292): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(274): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 362 | 0.0028 | 281 | c.-75 others(300): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995367 | A | ACAGCATG others(274): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0158 | 1 | 362 | 0.0028 | 281 | c.-75 others(300): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar |