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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(702): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0029 | a0001c0029t0025 | a0001c0029t0025g0195 | 1 | 68 | 0.0147 | 709 | c.226 others(728): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(702): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18973.hp2 |
a0001a0014 | a0001c0001a0014c0013 | a0001c0001t0002a0014c0013t0001 | a0001c0001t0002g0084 a0014c0013t0001g0017 |
2 | 25 | 0.0800 | 709 | c.147 others(726): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(702): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 100 | 0.0100 | 709 | c.907 others(726): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(702): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 100 | 0.0100 | 709 | c.907 others(726): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(702): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0044 | 1 | 16 | 0.0625 | 709 | c.88+ others(728): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(702): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0031others(4): Show | a0001c0002t0002a0001c0003t0002a0001c0031t0001others(4): Show | a0001c0002t0002g0058 a0001c0003t0002g0043 a0001c0031t0001g0056 others(4): Show |
7 | 22 | 0.3182 | 709 | c.88+ others(728): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCCCC others(702): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0022 | 1 | 132 | 0.0076 | 709 | c.126 others(728): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(702): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0012 | a0001c0002t0007g0113 a0001c0002t0012g0114 |
2 | 120 | 0.0167 | 709 | c.389 others(730): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(702): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0180 | 1 | 149 | 0.0067 | 709 | c.-12 others(728): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(702): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0052 | a0002c0052t0002 | a0002c0052t0002g0058 | 1 | 192 | 0.0052 | 709 | c.89- others(722): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(702): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0045 | 1 | 122 | 0.0082 | 709 | c.89- others(722): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCYL2_chr12_100262177_100346715 | 100294428 | G | GGGGGTGA others(702): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 130 | 0.0077 | 709 | c.335 others(726): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(702): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 40 | 0.0250 | 709 | c.77- others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356680 | T | TCCCCCTC others(702): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0003 | 1 | 141 | 0.0071 | 709 | c.77- others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(702): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 9 | 0.1111 | 709 | c.914 others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(702): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 45 | 0.0222 | 709 | c.22+ others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356680 | T | TCCCCCTC others(702): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0032 | a0003c0003t0032g0055 | 1 | 148 | 0.0068 | 709 | c.22+ others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(702): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 9 | 0.1111 | 709 | c.860 others(726): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(702): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 709 | c.*12 others(720): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376773 | C | CCCCACCC others(702): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0314 | 1 | 337 | 0.0030 | 709 | c.-80 others(718): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 748 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161833 | G | GGACCCCT others(702): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 | 1 | 98 | 0.0102 | 709 | c.*23 others(720): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2095 | chr11 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(702): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0019 | a0019c0030 | a0019c0030t0003 | a0019c0030t0003g0105 | 1 | 10 | 0.1000 | 709 | c.-25 others(728): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418890 | C | CTCTCCTT others(702): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0046 | 1 | 112 | 0.0089 | 709 | c.215 others(726): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(702): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0003 | a0003c0021 | a0003c0021t0006 | a0003c0021t0006g0201 | 1 | 49 | 0.0204 | 709 | c.537 others(726): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(702): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0037 | a0001c0037t0072 | a0001c0037t0072g0110 | 1 | 49 | 0.0204 | 709 | c.537 others(726): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAG others(702): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 162 | 0.0062 | 709 | c.519 others(724): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144780648 | T | TAGTATAT others(702): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 111 | 0.0090 | 709 | c.44- others(726): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(702): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0189 | 1 | 100 | 0.0100 | 709 | c.-10 others(726): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2336798 | A | ATGAGGAG others(702): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0113 | 1 | 288 | 0.0035 | 709 | c.611 others(724): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCCTCCC others(702): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 270 | 0.0037 | 709 | c.4-1 others(722): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(702): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03041.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0247 |
3 | 11 | 0.2727 | 709 | c.4-1 others(722): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613154 | C | CCTCATCC others(702): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 320 | 0.0031 | 709 | c.4-1 others(722): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(702): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 NA18956.hp2 NA19000.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0055 a0001c0001t0002g0206 |
5 | 187 | 0.0267 | 709 | c.-42 others(720): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(702): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 183 | 0.0055 | 709 | c.-42 others(720): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(702): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 183 | 0.0055 | 709 | c.-42 others(720): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70686955 | C | CGGGGCGG others(703): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101 | 1 | 346 | 0.0029 | 710 | c.522 others(729): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70686955 | C | CGGGGCGG others(703): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02965.hp2 HG04228.hp1 others(1): Show |
a0001a0006 | a0001c0002a0001c0038a0001c0058others(1): Show | a0001c0002t0014a0001c0038t0043a0001c0058t0045others(1): Show | a0001c0002t0014g0120 a0001c0038t0043g0338 a0001c0058t0045g0341 others(1): Show |
4 | 349 | 0.0115 | 710 | c.522 others(729): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(703): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0088 | a0002c0003t0088g0248 | 1 | 7 | 0.1429 | 710 | c.775 others(725): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(703): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 7 | 0.1429 | 710 | c.775 others(725): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581275 | T | TACGTATA others(703): Show |
intron_variant | MODIFIER | HG01099.hp1 NA18940.hp1 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0071 a0001c0001t0001g0168 a0001c0001t0006g0026 others(1): Show |
4 | 107 | 0.0374 | 710 | c.48- others(727): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(703): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0000 | 1 | 10 | 0.1000 | 710 | c.*10 others(723): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(703): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 164 | 0.0061 | 710 | c.331 others(729): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(703): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 194 | 0.0052 | 710 | c.300 others(727): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(703): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 12 | 0.0833 | 710 | c.-45 others(731): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(703): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0008 | 1 | 11 | 0.0909 | 710 | c.-26 others(719): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(703): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0083 | 1 | 11 | 0.0909 | 710 | c.-26 others(719): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(703): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0166 | 1 | 180 | 0.0056 | 710 | c.85- others(727): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(703): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0083 | a0004c0083t0001 | a0004c0083t0001g0151 | 1 | 224 | 0.0045 | 710 | c.118 others(729): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(703): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0210 | 1 | 214 | 0.0047 | 710 | c.118 others(729): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 601974 | A | ACACATTC others(703): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 262 | 0.0038 | 710 | c.743 others(727): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar |