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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2215): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 272 | 0.0037 | 2222 | c.-12 others(2243): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2215): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 272 | 0.0037 | 2222 | c.-12 others(2243): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CACCACAC others(2215): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 338 | 0.0030 | 2222 | c.*35 others(2241): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2216): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 392 | 0.0026 | 2223 | c.128 others(2238): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716060 | G | GGGGGAGG others(2216): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 | 1 | 170 | 0.0059 | 2223 | c.86- others(2236): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HTN3_chr4_70023459_70041538 | 70029284 | T | TAAAAAGA others(2216): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19000.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 412 | 0.0073 | 2223 | c.-14 others(2238): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(2216): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 312 | 0.0032 | 2223 | c.-41 others(2238): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2216): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0175 | 2 | 301 | 0.0066 | 2223 | c.-11 others(2234): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027a0001c0002t0001g0029 | 2 | 294 | 0.0068 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0083 | 1 | 294 | 0.0034 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01069.hp1 others(58): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(19): Show | a0001c0002t0001g0021a0001c0002t0001g0028a0001c0002t0001g0039others(58): Show | 61 | 294 | 0.2075 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0051 | a0002c0051t0001 | a0002c0051t0001g0206 | 1 | 294 | 0.0034 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0052 | 1 | 294 | 0.0034 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2216): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 294 | 0.0034 | 2223 | c.515 others(2240): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2216): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0132 | 1 | 307 | 0.0033 | 2223 | c.161 others(2242): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2216): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 1 | 375 | 0.0027 | 2223 | c.*44 others(2234): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2216): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 376 | 0.0027 | 2223 | c.101 others(2240): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168594213 | C | CGAGCATC others(2216): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0005 | a0001c0002t0002g0037a0001c0004t0005g0049 | 2 | 180 | 0.0111 | 2223 | c.638 others(2240): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2217): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 334 | 0.0030 | 2224 | c.147 others(2241): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375137 | A | AGGAAGGG others(2217): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0169 | 1 | 184 | 0.0054 | 2224 | c.784 others(2239): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88712912 | C | CCCCGAGA others(2217): Show |
intron_variant | MODIFIER | HG03710.hp1 NA20752.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0039 | 2 | 418 | 0.0048 | 2224 | c.737 others(2237): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HTN3_chr4_70023459_70041538 | 70029284 | T | TAAAAAGA others(2217): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 412 | 0.0024 | 2224 | c.-14 others(2239): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88712912 | C | CCCCGAGA others(2217): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 NA20752.hp2 |
a0019 | a0019c0151a0019c0152 | a0019c0151t0001a0019c0152t0001 | a0019c0151t0001g0155a0019c0152t0001g0154 | 2 | 282 | 0.0071 | 2224 | c.*26 others(2235): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2425 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2217): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0058 | a0058c0055 | a0058c0055t0002 | a0058c0055t0002g0191 | 1 | 216 | 0.0046 | 2224 | c.801 others(2241): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2217): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0149 | 1 | 167 | 0.0060 | 2224 | c.*53 others(2235): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2217): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0132 | 1 | 418 | 0.0024 | 2224 | c.341 others(2241): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2217): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0143a0003c0004t0004g0148 | 2 | 228 | 0.0088 | 2224 | c.127 others(2241): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 100690 | T | TAATCCAT others(2218): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0036 | a0001c0036t0077 | a0001c0036t0077g0149 | 1 | 210 | 0.0048 | 2225 | c.45+ others(2240): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2218): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0131 | 1 | 307 | 0.0033 | 2225 | c.161 others(2244): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8466718 | A | AGGTGGTG others(2218): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 271 | 0.0037 | 2225 | c.*33 others(2234): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 209 | chrX | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 977858 | C | CGTTCTGG others(2219): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03710.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0003 | a0001c0003t0001g0025a0002c0001t0003g0022 | 2 | 40 | 0.0500 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 977920 | C | CTTTGGTG others(2219): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 978353 | T | TGTGGGGA others(2219): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0007 | a0007c0030 | a0007c0030t0001 | a0007c0030t0001g0228 | 1 | 292 | 0.0034 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 | 1 | 292 | 0.0034 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706353 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0209 | 1 | 292 | 0.0034 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0012 | a0012c0102 | a0012c0102t0010 | a0012c0102t0010g0210 | 1 | 369 | 0.0027 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0057 | a0057c0080 | a0057c0080t0002 | a0057c0080t0002g0178 | 1 | 369 | 0.0027 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 NA19002.hp1 NA19003.hp1 others(1): Show |
a0001a0008a0014 | a0001c0002a0008c0013a0014c0021 | a0001c0002t0003a0008c0013t0003a0014c0021t0001 | a0001c0002t0003g0176a0008c0013t0003g0175a0014c0021t0001g0179others(1): Show | 4 | 369 | 0.0108 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(2219): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 190 | 0.0053 | 2226 | c.719 others(2245): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(2219): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02155.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043a0001c0002t0001g0044 | 2 | 392 | 0.0051 | 2226 | c.157 others(2245): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467337 | G | GGGGAGGG others(2219): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0000 | a0000c0053 | a0000c0053t0015 | a0000c0053t0015g0022 | 1 | 271 | 0.0037 | 2226 | c.*95 others(2235): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 828 | chrX | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2220): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0199 | 1 | 298 | 0.0034 | 2227 | c.126 others(2244): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATAGACA others(2220): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0013 | a0013c0038 | a0013c0038t0005 | a0013c0038t0005g0094 | 1 | 292 | 0.0034 | 2227 | c.228 others(2244): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATAGACA others(2220): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0050 | a0050c0087 | a0050c0087t0018 | a0050c0087t0018g0086 | 1 | 369 | 0.0027 | 2227 | c.-49 others(2238): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355407 | T | TGCGGCCC others(2220): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0064 | 1 | 82 | 0.0122 | 2227 | c.758 others(2242): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
MIGA2_chr9_129031626_129077082 | 129045441 | C | CAAAAAAA others(2220): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 300 | 0.0033 | 2227 | c.308 others(2244): Show |
MIGA2 | ENSG00000148343.19 | transcript | ENST00000684074.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81426126 | A | AGTGGTGG others(2221): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0234 | 1 | 332 | 0.0030 | 2228 | c.179 others(2243): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(2221): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 338 | 0.0030 | 2228 | c.300 others(2245): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MBD3L4_chr19_7032749_7045179 | 7038999 | T | TGACTCTC others(2221): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0011 | a0011c0020 | a0011c0020t0002 | a0011c0020t0002g0043 | 1 | 262 | 0.0038 | 2228 | c.46- others(2241): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1/1 | chr19 | TogoVar |