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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ETHE1_chr19_43501719_43532201 | 43517377 | C | CACCTGTA others(1080): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 406 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 176 | 0.0057 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | 177 | 0.0113 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0136 a0001c0001t0001g0137 |
3 | 178 | 0.0169 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 177 | 0.0113 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(93): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(55): Show |
96 | 271 | 0.3542 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0244 a0002c0003t0001g0278 |
2 | 177 | 0.0113 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03669.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 |
3 | 178 | 0.0169 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 176 | 0.0057 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | 177 | 0.0113 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 176 | 0.0057 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 176 | 0.0057 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01069.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0032 others(21): Show |
40 | 215 | 0.1860 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0169 a0001c0001t0001g0171 |
6 | 181 | 0.0331 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1080): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0171 | 1 | 213 | 0.0047 | 1087 | c.258 others(1104): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0198 | 1 | 191 | 0.0052 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 212 | 0.0047 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0236 | 1 | 212 | 0.0047 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 |
a0006a0009 | a0006c0027a0009c0092 | a0006c0027t0001a0009c0092t0001 | a0006c0027t0001g0080 a0009c0092t0001g0078 |
2 | 103 | 0.0194 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02109.hp2 others(5): Show |
a0006a0009a0010others(3): Show | a0006c0062a0009c0016a0010c0018others(4): Show | a0006c0062t0001a0009c0016t0001a0010c0018t0001others(4): Show | a0006c0062t0001g0228 a0009c0016t0001g0012 a0010c0018t0001g0011 others(5): Show |
8 | 109 | 0.0734 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0077 | a0077c0100 | a0077c0100t0001 | a0077c0100t0001g0001 | 1 | 102 | 0.0098 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1080): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0008 | 1 | 30 | 0.0333 | 1087 | c.433 others(1104): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1080): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 114 | 0.0088 | 1087 | c.360 others(1106): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977277 | C | CGGTCCTC others(1080): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0010 | a0010c0082 | a0010c0082t0001 | a0010c0082t0001g0076 | 1 | 83 | 0.0120 | 1087 | c.199 others(1106): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1080): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 271 | 0.0037 | 1087 | c.*11 others(1106): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637395 | T | TATATATT others(1080): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0089 | 1 | 262 | 0.0038 | 1087 | c.*72 others(1098): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3861 | chr10 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1080): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0069 a0001c0001t0006g0186 |
2 | 104 | 0.0192 | 1087 | c.749 others(1102): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1080): Show |
intron_variant | MODIFIER | HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0081 a0001c0001t0006g0198 |
2 | 104 | 0.0192 | 1087 | c.749 others(1102): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1080): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 a0001c0001t0003g0236 |
2 | 362 | 0.0055 | 1087 | c.-23 others(1104): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670482 | T | TCCGTGCA others(1080): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0087 | 1 | 314 | 0.0032 | 1087 | c.129 others(1104): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670482 | T | TCCGTGCA others(1080): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 314 | 0.0032 | 1087 | c.129 others(1104): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(1081): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02976.hp2 |
a0007a0050 | a0007c0016a0050c0059 | a0007c0016t0003a0050c0059t0003 | a0007c0016t0003g0053 a0050c0059t0003g0013 |
2 | 294 | 0.0068 | 1088 | c.170 others(1109): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(1081): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0007 | a0007c0032 | a0007c0032t0003 | a0007c0032t0003g0017 | 1 | 293 | 0.0034 | 1088 | c.170 others(1109): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456215 | T | TTTATGTA others(1081): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 | 1 | 179 | 0.0056 | 1088 | c.505 others(1107): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1081): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 3 | 0.3333 | 1088 | c.787 others(1103): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1081): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 224 | 0.0045 | 1088 | c.927 others(1105): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1081): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0236 a0001c0001t0005g0241 |
2 | 53 | 0.0377 | 1088 | c.927 others(1105): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1081): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 52 | 0.0192 | 1088 | c.927 others(1105): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758488 | C | CCACCTGC others(1081): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0067 | a0002c0067t0001 | a0002c0067t0001g0053 | 1 | 244 | 0.0041 | 1088 | c.655 others(1107): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1081): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0023 | a0023c0114 | a0023c0114t0006 | a0023c0114t0006g0176 | 1 | 103 | 0.0097 | 1088 | c.300 others(1105): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1081): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 157 | 0.0064 | 1088 | c.193 others(1105): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1081): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0020 | a0020c0020 | a0020c0020t0002 | a0020c0020t0002g0058 | 1 | 243 | 0.0041 | 1088 | c.666 others(1103): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1081): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 218 | 0.0046 | 1088 | c.666 others(1103): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(1081): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0196 |
2 | 275 | 0.0073 | 1088 | c.51+ others(1103): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1081): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 353 | 0.0028 | 1088 | c.51+ others(1103): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(1081): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0077 | 1 | 2 | 0.5000 | 1088 | c.415 others(1109): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619063 | C | CCCCCCCG others(1081): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 233 | 0.0043 | 1088 | c.-10 others(1107): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1081): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 176 | 0.0057 | 1088 | c.376 others(1105): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1081): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 176 | 0.0057 | 1088 | c.376 others(1105): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1081): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0133 a0001c0002t0001g0008 a0001c0002t0001g0012 others(47): Show |
59 | 234 | 0.2521 | 1088 | c.376 others(1105): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar |