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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH14_chr1_224924675_225404286 | 225403850 | GGATCCCC others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 NA20752.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 |
3 | 238 | 0.0126 | -45 | c.*45 others(56): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 4565 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78541029 | GTGGGTGG others(38): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0054 | a0054c0193 | a0054c0193t0008 | a0054c0193t0008g0107 | 1 | 244 | 0.0041 | -45 | c.253 others(64): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38874137 | TTCTCTTT others(38): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00733.hp1 others(26): Show |
a0001a0003a0005others(10): Show | a0001c0035a0001c0040a0003c0006others(17): Show | a0001c0035t0001a0001c0040t0002a0003c0006t0001others(17): Show | a0001c0035t0001g0028 a0001c0040t0002g0129 a0003c0006t0001g0121 others(26): Show |
29 | 282 | 0.1028 | -45 | c.762 others(62): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAJB5_chr9_34984745_35003428 | 34987862 | CATCCCTC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0031 |
2 | 448 | 0.0045 | -45 | c.-21 others(56): Show |
DNAJB5 | ENSG00000137094.16 | transcript | ENST00000682809.1 | protein_coding | 1882 | chr9 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(38): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0134 | 1 | 87 | 0.0115 | -45 | c.848 others(62): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNM1L_chr12_32674301_32750650 | 32717383 | AATATATA others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01123.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0019 a0001c0002t0002g0023 others(21): Show |
25 | 227 | 0.1101 | -45 | c.620 others(62): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 50970846 | AAGTTTCT others(38): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0182 |
2 | 210 | 0.0095 | -45 | c.315 others(64): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 51041178 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 196 | 0.0051 | -45 | c.316 others(64): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36257771 | GAGATGTA others(38): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0228 | 1 | 290 | 0.0034 | -45 | c.526 others(64): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154778833 | TGTACAAC others(38): Show |
T | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0030 | 1 | 36 | 0.0278 | -45 | c.113 others(64): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | chr7 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97323550 | CATATATG others(38): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03491.hp1 NA19030.hp2 |
a0007a0011 | a0007c0008a0011c0011 | a0007c0008t0001a0007c0008t0002a0011c0011t0004 | a0007c0008t0001g0041 a0007c0008t0002g0038 a0011c0011t0004g0049 |
3 | 49 | 0.0612 | -45 | c.205 others(66): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132187339 | CGGCCCTG others(38): Show |
C | intron_variant | MODIFIER | HG00735.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0140 a0001c0001t0003g0182 |
2 | 400 | 0.0050 | -45 | c.39+ others(58): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486307 | AGTGGATG others(38): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0081 | 1 | 183 | 0.0055 | -45 | c.236 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486360 | TGAAAGTG others(38): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp1 NA18522.hp2 |
a0001a0002 | a0001c0011a0001c0023a0002c0060 | a0001c0011t0002a0001c0023t0001a0002c0060t0002 | a0001c0011t0002g0064 a0001c0023t0001g0062 a0002c0060t0002g0193 |
3 | 194 | 0.0155 | -45 | c.236 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117577437 | TTTCCTTC others(38): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0009others(15): Show | a0001c0005t0001a0001c0007t0001a0001c0009t0002others(16): Show | a0001c0005t0001g0093 a0001c0005t0001g0104 a0001c0007t0001g0111 others(20): Show |
23 | 93 | 0.2473 | -45 | c.512 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31457540 | TTTCTTTC others(38): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02647.hp2 HG02818.hp2 others(1): Show |
a0001a0008 | a0001c0003a0001c0011a0008c0012 | a0001c0003t0028a0001c0011t0030a0008c0012t0027 | a0001c0003t0028g0161 a0001c0003t0028g0162 a0001c0011t0030g0196 others(1): Show |
4 | 344 | 0.0116 | -45 | c.216 others(60): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87615783 | GATAGCAG others(38): Show |
G | disruptive_inframe_deletion | MODERATE | HG01928.hp1 | a0025 | a0025c0047 | a0025c0047t0001 | a0025c0047t0001g0001 | 1 | 447 | 0.0022 | -45 | c.313 others(54): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3258/4331 | 3138/3906 | 1046/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DTD1_chr20_18583054_18771644 | 18708228 | TATTTTAT others(38): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0004 | 1 | 391 | 0.0026 | -45 | c.478 others(64): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DTHD1_chr4_36276616_36352511 | 36332187 | AAAAATAA others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0004a0001c0033others(5): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(11): Show | a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0209 others(33): Show |
36 | 76 | 0.4737 | -45 | c.234 others(64): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DUT_chr15_48326429_48348373 | 48330409 | CTTAGTAC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00673.hp1 others(45): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0062 others(4): Show |
48 | 386 | 0.1244 | -45 | c.-11 others(56): Show |
DUT | ENSG00000128951.14 | transcript | ENST00000331200.8 | protein_coding | 1019 | chr15 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95643211 | CGGGGAAT others(38): Show |
C | splice_region_variant | LOW | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0011 | 1 | 380 | 0.0026 | -45 | c.-42 others(54): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133377838 | GAGCCAGC others(38): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0037 | 1 | 352 | 0.0028 | -45 | c.-45 others(56): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 4485 | chr10 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(38): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0100 | 1 | 13 | 0.0769 | -45 | c.-40 others(56): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36271839 | CTATTCTA others(38): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0184 others(12): Show |
15 | 344 | 0.0436 | -45 | c.931 others(62): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3L_chr22_37844419_37894407 | 37891039 | ATTCTCCT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(82): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0015 others(78): Show |
85 | 316 | 0.2690 | -45 | c.*25 others(56): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 1633 | chr22 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20816322 | GCGGGGGG others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0095 a0001c0001t0001g0188 a0001c0001t0001g0223 others(60): Show |
63 | 309 | 0.2039 | -45 | c.451 others(64): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 34/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3304492 | GTCCCATC others(38): Show |
G | intron_variant | MODIFIER | HG02572.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0027 a0001c0001t0004g0026 |
2 | 248 | 0.0081 | -45 | c.259 others(64): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205631509 | CCGGCCCC others(38): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0077 | a0001c0002t0002g0258 a0001c0002t0077g0257 |
2 | 422 | 0.0047 | -45 | c.-10 others(59): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306314 | GGAGAGGG others(38): Show |
G | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 317 | 0.0032 | -45 | c.-8- others(62): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306342 | GGAGAGGG others(38): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0301 | 1 | 318 | 0.0031 | -45 | c.-8- others(62): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819059 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0161 | 1 | 248 | 0.0040 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819069 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0128 | 1 | 206 | 0.0049 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819089 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0104 a0001c0001t0005g0011 a0001c0001t0005g0015 others(9): Show |
14 | 255 | 0.0549 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796326 | ATTATATA others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0013a0001c0009t0013 | a0001c0003t0013g0298 a0001c0003t0013g0299 a0001c0003t0013g0300 others(1): Show |
4 | 330 | 0.0121 | -45 | c.-38 others(56): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3374 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54956237 | GTTTGTTT others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 others(243): Show |
246 | 262 | 0.9389 | -45 | c.448 others(64): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667208 | GTGATGGA others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0019 | 2 | 410 | 0.0049 | -45 | c.*70 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3109 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667411 | GTGATGGT others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp1 NA20129.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0095 a0002c0002t0005g0133 a0002c0002t0005g0253 |
3 | 414 | 0.0072 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2906 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667418 | TGATGGTG others(38): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 356 | 0.0028 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2899 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667430 | AGATGGTG others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02698.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0270 a0001c0001t0002g0092 a0001c0001t0002g0229 |
3 | 278 | 0.0108 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2887 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667454 | TGATGATG others(38): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0111 a0001c0001t0006g0227 |
2 | 384 | 0.0052 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2863 | chr18 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89211725 | TTTCTTCT others(38): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 NA19010.hp1 |
a0002a0004a0006 | a0002c0003a0004c0007a0006c0010 | a0002c0003t0003a0004c0007t0005a0006c0010t0005 | a0002c0003t0003g0026 a0004c0007t0005g0004 a0006c0010t0005g0002 |
3 | 54 | 0.0556 | -45 | c.814 others(62): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566912 | AGGAGAAG others(38): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0284 a0001c0001t0011g0243 a0001c0001t0011g0244 |
3 | 289 | 0.0104 | -45 | c.159 others(62): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576034 | GAAAGAAA others(38): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0155 | 1 | 232 | 0.0043 | -45 | c.910 others(64): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96787781 | ATATTATA others(38): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0194 | 1 | 414 | 0.0024 | -45 | c.167 others(62): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 11/18 | chr5 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073500 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG03491.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0091 a0001c0001t0001g0106 others(4): Show |
8 | 402 | 0.0199 | -45 | c.58+ others(60): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ETDB_chrX_135113955_135125526 | 135114243 | TAATTCAT others(38): Show |
T | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | -45 | c.*47 others(56): Show |
ETDB | ENSG00000224107.5 | transcript | ENST00000423661.1 | protein_coding | 4711 | chrX | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816012 | AGGGAGGG others(38): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 a0001c0002t0002g0169 |
2 | 424 | 0.0047 | -45 | c.506 others(60): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76020080 | CTAAACCT others(38): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 HG02976.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0216 others(1): Show |
4 | 402 | 0.0100 | -45 | c.101 others(62): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 9/21 | chr17 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443220 | GGGCGGCG others(38): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 376 | 0.0027 | -45 | c.-11 others(53): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2933 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823865 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 100 | 0.0100 | -45 | c.173 others(64): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar |