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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 NA18747.hp1 |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0001c0001t0009a0008c0019t0003 | a0001c0001t0001g0179 a0001c0001t0009g0015 a0008c0019t0003g0180 |
3 | 45 | 0.0667 | 2220 | c.-12 others(2241): 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(2213): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 43 | 0.0233 | 2220 | c.-12 others(2241): 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(2213): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 43 | 0.0233 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294184 | A | ACAAGTTA others(2213): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 259 | 0.0039 | 2220 | c.340 others(2237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294184 | A | GCAAGTTA others(2213): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 259 | 0.0039 | 2220 | c.340 others(2237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2214): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 233 | 0.0043 | 2221 | c.366 others(2238): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(2214): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 174 | 0.0057 | 2221 | c.294 others(2238): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31547680 | C | CCAAAAAA others(2214): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 268 | 0.0037 | 2221 | c.381 others(2238): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811286 | C | CCCTTCCT others(2214): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0143 | 1 | 159 | 0.0063 | 2221 | c.773 others(2236): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(2214): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 342 | 0.0029 | 2221 | c.4-1 others(2234): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCID2_chr13_113172536_113213669 | 113176538 | A | AATTGCCC others(2214): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0176 a0001c0002t0004g0177 |
2 | 170 | 0.0118 | 2221 | c.*16 others(2232): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 997 | chr13 | TogoVar | |||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2214): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0128 | 1 | 301 | 0.0033 | 2221 | c.161 others(2240): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113176538 | A | AATTGCCC others(2214): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 a0001c0001t0002g0206 |
2 | 156 | 0.0128 | 2221 | c.*44 others(2232): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4153 | chr13 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(2215): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 250 | 0.0040 | 2222 | c.303 others(2241): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2215): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 30 | 0.0333 | 2222 | c.445 others(2237): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0078 | a0007c0078t0002 | a0007c0078t0002g0218 | 1 | 260 | 0.0038 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0007 | a0007c0080 | a0007c0080t0002 | a0007c0080t0002g0219 | 1 | 260 | 0.0038 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 249 | 0.0040 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATAGACA others(2215): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0165 | 1 | 256 | 0.0039 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GACAGATA others(2215): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 230 | 0.0043 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0014 | a0014c0097 | a0014c0097t0044 | a0014c0097t0044g0204 | 1 | 335 | 0.0030 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0010 | a0010c0035 | a0010c0035t0002 | a0010c0035t0002g0203 | 1 | 335 | 0.0030 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0319 | 1 | 318 | 0.0031 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0277 | 1 | 318 | 0.0031 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0289 | 1 | 318 | 0.0031 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 | 1 | 318 | 0.0031 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATAGACA others(2215): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0200 | 1 | 322 | 0.0031 | 2222 | c.-49 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2215): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0102 | a0102c0045 | a0102c0045t0001 | a0102c0045t0001g0022 | 1 | 8 | 0.1250 | 2222 | c.723 others(2239): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2215): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 4 | 0.2500 | 2222 | c.515 others(2239): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2215): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 43 | 0.0233 | 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 | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 43 | 0.0233 | 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 | 43 | 0.0233 | 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 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 229 | 0.0044 | 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 | a0001c0001t0001g0179 | 1 | 89 | 0.0112 | 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 | a0001c0003t0001g0089 | 1 | 166 | 0.0060 | 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 | 409 | 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 | a0001c0001t0001g0061 | 1 | 5 | 0.2000 | 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 | a0001c0001t0002g0004 a0001c0001t0002g0175 |
2 | 250 | 0.0080 | 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 | a0001c0002t0001g0027 a0001c0002t0001g0029 |
2 | 5 | 0.4000 | 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 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0082 | 1 | 4 | 0.2500 | 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 |
a0001a0002a0004others(2): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(19): Show | a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0040 others(58): Show |
61 | 64 | 0.9531 | 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 | a0002c0051t0001g0208 | 1 | 4 | 0.2500 | 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 | a0001c0008t0001g0074 | 1 | 4 | 0.2500 | 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 | 4 | 0.2500 | 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 | a0001c0002t0005 | a0001c0002t0005g0132 | 1 | 301 | 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 | 322 | 0.0031 | 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 | a0001c0001t0001g0072 | 1 | 228 | 0.0044 | 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 | a0001c0002t0002g0037 a0001c0004t0005g0049 |
2 | 176 | 0.0114 | 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 | 50 | 0.0200 | 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 | a0001c0003t0002g0047 | 1 | 169 | 0.0059 | 2224 | c.784 others(2239): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |