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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(3714): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0034 | a0034c0120 | a0034c0120t0001 | a0034c0120t0001g0127 | 1 | 174 | 0.0058 | 3721 | c.193 others(3740): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 211003750 | C | CAAAAGAA others(3714): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 164 | 0.0061 | 3721 | c.103 others(3742): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3715): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 342 | 0.0029 | 3722 | c.366 others(3739): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(3716): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0028 | 1 | 188 | 0.0053 | 3723 | c.147 others(3742): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49400776 | T | TAAGAATA others(3717): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0001 | 1 | 290 | 0.0035 | 3724 | c.141 others(3741): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(3717): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 373 | 0.0027 | 3724 | c.115 others(3741): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
CDH12_chr5_21745673_22858344 | 22629325 | A | AGGCCAAA others(3718): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0030 | 1 | 60 | 0.0167 | 3725 | c.-52 others(3748): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34187607 | T | TTCAAATT others(3718): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 342 | 0.0029 | 3725 | c.-8+ others(3740): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(3719): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 323 | 0.0031 | 3726 | c.-21 others(3737): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3719): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0029 | a0029c0028 | a0029c0028t0010 | a0029c0028t0010g0004 | 1 | 282 | 0.0036 | 3726 | c.299 others(3741): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(3719): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 376 | 0.0027 | 3726 | c.101 others(3745): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UBAP1_chr9_34174043_34257523 | 34187607 | T | TTCAAATT others(3720): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 342 | 0.0029 | 3727 | c.-8+ others(3742): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3721): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0037 | a0037c0044 | a0037c0044t0001 | a0037c0044t0001g0167 | 1 | 186 | 0.0054 | 3728 | c.723 others(3745): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(3722): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 260 | 0.0039 | 3729 | c.624 others(3746): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRR23D1_chr8_7534627_7547450 | 7536809 | T | TAAAAAAA others(3726): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0000 | a0000c0001 | a0000c0001t0006 | a0000c0001t0006g0008 | 1 | 166 | 0.0060 | 3733 | c.-29 others(3744): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 2817 | chr8 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311780 | G | GTGCCCCA others(3726): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 344 | 0.0029 | 3733 | c.327 others(3750): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328267 | A | ATACACCC others(3727): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0016 | a0016c0026 | a0016c0026t0001 | a0016c0026t0001g0033 | 1 | 82 | 0.0122 | 3734 | c.199 others(3753): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(3729): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0033 | 1 | 290 | 0.0035 | 3736 | c.129 others(3753): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3729): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 212 | 0.0094 | 3736 | c.111 others(3753): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3729): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0122 | 1 | 167 | 0.0060 | 3736 | c.*53 others(3747): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3730): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 3 | 266 | 0.0113 | 3737 | c.-34 others(3752): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79554445 | T | TTCACTCA others(3730): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 154 | 0.0065 | 3737 | c.-32 others(3758): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3731): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 236 | 0.0042 | 3738 | c.294 others(3755): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3731): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 236 | 0.0042 | 3738 | c.294 others(3755): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953959 | A | AACCAGCC others(3731): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 294 | 0.0034 | 3738 | c.503 others(3753): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
NDC80_chr18_2566557_2621635 | 2607819 | A | ACAAACAT others(3731): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 402 | 0.0025 | 3738 | c.155 others(3755): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3732): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0186 | 1 | 342 | 0.0029 | 3739 | c.366 others(3756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3732): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0223 | 1 | 236 | 0.0042 | 3739 | c.294 others(3756): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3732): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 236 | 0.0042 | 3739 | c.294 others(3756): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400887 | C | CCACCACC others(3733): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0060 | a0060c0128 | a0060c0128t0003 | a0060c0128t0003g0247 | 1 | 256 | 0.0039 | 3740 | c.323 others(3759): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3733): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0040 | a0040c0089 | a0040c0089t0001 | a0040c0089t0001g0109 | 1 | 186 | 0.0054 | 3740 | c.723 others(3757): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3735): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 298 | 0.0034 | 3742 | c.126 others(3759): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HSH2D_chr19_16138685_16163575 | 16146829 | C | CTTTTTTT others(3736): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 394 | 0.0025 | 3743 | c.-27 others(3760): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502701 | C | CGAGGGGG others(3736): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0035 | 1 | 188 | 0.0053 | 3743 | c.147 others(3760): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3736): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0094 | 1 | 250 | 0.0040 | 3743 | c.-21 others(3760): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3736): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0014 | a0003c0014t0003 | a0003c0014t0003g0044 | 1 | 44 | 0.0227 | 3743 | c.296 others(3760): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3736): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0051 | 1 | 126 | 0.0079 | 3743 | c.-28 others(3762): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3737): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19063.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0069 | 3 | 175 | 0.0171 | 3744 | c.164 others(3763): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3737): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 175 | 0.0057 | 3744 | c.164 others(3763): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877090 | T | TGGAGGTT others(3737): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 274 | 0.0037 | 3744 | c.224 others(3763): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3737): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19007.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0351a0001c0002t0001g0353 | 2 | 390 | 0.0051 | 3744 | c.161 others(3763): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3737): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0357 | 1 | 390 | 0.0026 | 3744 | c.161 others(3763): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20701587 | T | TAATACTG others(3738): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0015 | a0015c0106 | a0015c0106t0002 | a0015c0106t0002g0180 | 1 | 360 | 0.0028 | 3745 | c.233 others(3764): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3738): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 175 | 0.0057 | 3745 | c.164 others(3764): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 126947711 | A | ATGGTGGT others(3738): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0005 | a0005c0014 | a0005c0014t0004 | a0005c0014t0004g0057 | 1 | 136 | 0.0074 | 3745 | c.47- others(3762): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3738): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0146 | 1 | 214 | 0.0047 | 3745 | c.206 others(3764): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3972740 | T | TAACCTGT others(3740): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0018 | 1 | 300 | 0.0033 | 3747 | c.270 others(3764): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3741): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0097 | 1 | 390 | 0.0026 | 3748 | c.109 others(3763): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3741): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 290 | 0.0035 | 3748 | c.129 others(3767): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3742): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0112 | 1 | 186 | 0.0054 | 3749 | c.723 others(3766): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |