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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(722): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0195 a0001c0001t0002g0196 others(3): Show |
6 | 188 | 0.0319 | 729 | c.-42 others(740): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACTTCC others(723): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 |
a0004 | a0004c0004a0004c0009 | a0004c0004t0001a0004c0009t0015 | a0004c0004t0001g0127 a0004c0009t0015g0140 |
2 | 215 | 0.0093 | 730 | c.318 others(749): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACTTCC others(723): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0006 | a0003c0006t0016 | a0003c0006t0016g0172 | 1 | 214 | 0.0047 | 730 | c.318 others(749): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(723): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 251 | 0.0040 | 730 | c.908 others(745): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(723): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0015 | 1 | 251 | 0.0040 | 730 | c.908 others(745): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(723): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0233 | 1 | 7 | 0.1429 | 730 | c.775 others(745): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581231 | T | TATGTATA others(723): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 161 | 0.0062 | 730 | c.48- others(747): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGAAG others(723): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0071 | 1 | 5 | 0.2000 | 730 | c.927 others(747): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(723): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0060 | 1 | 5 | 0.2000 | 730 | c.927 others(747): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(723): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0104 | 1 | 5 | 0.2000 | 730 | c.927 others(747): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CTCCTCCC others(723): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0174 | 1 | 190 | 0.0053 | 730 | c.273 others(747): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(723): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0270 | 1 | 94 | 0.0106 | 730 | c.207 others(751): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(723): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 730 | c.*36 others(741): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(723): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 267 | 0.0037 | 730 | c.*36 others(741): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(723): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 3 | 10 | 0.3000 | 730 | c.-70 others(739): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1249648 | T | TCCCACTC others(723): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 326 | 0.0031 | 730 | c.-29 others(741): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2927 | chr1 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209170 | T | TTCCTTCC others(723): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 127 | 0.0079 | 730 | c.244 others(749): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(723): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0052 | 1 | 50 | 0.0200 | 730 | c.92+ others(747): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(723): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0036 | 1 | 205 | 0.0049 | 730 | c.411 others(747): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(723): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012 | 1 | 8 | 0.1250 | 730 | c.*69 others(741): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(723): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0013 | 1 | 8 | 0.1250 | 730 | c.*69 others(741): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(723): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0068 | 1 | 171 | 0.0058 | 730 | c.85- others(747): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(723): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG03710.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0002g0069 a0001c0001t0006g0110 a0001c0003t0001g0153 others(4): Show |
7 | 183 | 0.0383 | 730 | c.925 others(745): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978284 | A | ATATATAT others(723): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 85 | 0.0118 | 730 | c.-2+ others(747): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(723): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0296 | 1 | 85 | 0.0118 | 730 | c.827 others(745): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(723): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0077 | 1 | 85 | 0.0118 | 730 | c.827 others(745): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACACCC others(723): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0067 | 1 | 68 | 0.0147 | 730 | c.207 others(749): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397703 | G | GGGGGGTG others(723): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 324 | 0.0031 | 730 | c.-42 others(741): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4181 | chr16 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 968179 | C | CGCCTCTC others(723): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0134 | 1 | 274 | 0.0036 | 730 | c.663 others(745): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 5/22 | chr4 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1450088 | G | GCTGTGAG others(723): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 15 | 0.0667 | 730 | c.107 others(749): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(723): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0041 | a0041c0076 | a0041c0076t0002 | a0041c0076t0002g0196 | 1 | 214 | 0.0047 | 730 | c.118 others(749): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GGGAGAGG others(723): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 328 | 0.0030 | 730 | c.*29 others(741): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619161 | C | CCGCTCCC others(723): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 162 | 0.0062 | 730 | c.-10 others(749): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137350298 | G | GCTAGATA others(723): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0003 | 1 | 66 | 0.0152 | 730 | c.149 others(747): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355561 | A | ATGGAGGA others(723): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0023 | 1 | 79 | 0.0127 | 730 | c.757 others(745): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(723): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 172 | 0.0058 | 730 | c.157 others(747): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(723): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0002g0061 |
3 | 6 | 0.5000 | 730 | c.126 others(747): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(723): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 4 | 0.2500 | 730 | c.126 others(747): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(723): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0152 a0001c0002t0001g0058 a0001c0002t0004g0007 |
4 | 7 | 0.5714 | 730 | c.126 others(747): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(723): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 4 | 0.2500 | 730 | c.126 others(747): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(723): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 4 | 0.2500 | 730 | c.126 others(747): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GAK_chr4_844277_937316 | 904431 | A | AACCGAGC others(723): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(11): Show |
14 | 388 | 0.0361 | 730 | c.525 others(745): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(723): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 123 | 0.0081 | 730 | c.147 others(747): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(723): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 95 | 0.0105 | 730 | c.-97 others(747): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(723): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102 | 1 | 95 | 0.0105 | 730 | c.-97 others(747): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(723): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0200 | 1 | 134 | 0.0075 | 730 | c.-28 others(741): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(723): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0034 | a0001c0001t0003g0094 a0001c0006t0034g0032 |
2 | 198 | 0.0101 | 730 | c.737 others(749): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(723): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 197 | 0.0051 | 730 | c.737 others(749): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599478 | C | CAGCCCCC others(723): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0008 | 1 | 327 | 0.0031 | 730 | c.369 others(747): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(723): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0053 | a0001c0004t0053g0187 | 1 | 268 | 0.0037 | 730 | c.258 others(747): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |