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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELK3_chr12_96189375_96274824 | 96226609 | C | CCCACATG others(35): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0006g0003a0001c0001t0006g0045others(2): Show | 7 | 354 | 0.0198 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96227533 | C | CCCCCGGA others(35): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0286 | 2 | 354 | 0.0057 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96227533 | C | CCCCCGGA others(35): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 354 | 0.0028 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96227533 | C | CCCCCGGA others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(337): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(329): Show | 340 | 354 | 0.9605 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96227580 | G | GGAGGAGG others(35): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 354 | 0.0028 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96227591 | G | GTCCCTGT others(35): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 354 | 0.0028 | 42 | c.207 others(59): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GCGGTGTG others(35): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 312 | 0.0032 | 42 | c.-47 others(53): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGCGGG others(35): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 | 1 | 312 | 0.0032 | 42 | c.-47 others(53): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGCG others(35): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0228 | 1 | 312 | 0.0032 | 42 | c.-47 others(53): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411195 | C | CGGGTGTG others(35): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0114a0001c0001t0003g0066 | 2 | 312 | 0.0064 | 42 | c.-47 others(53): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4581 | chr20 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108443350 | A | AACACACA others(35): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG03017.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0046a0001c0001t0002g0105a0001c0001t0002g0142others(6): Show | 9 | 364 | 0.0247 | 42 | c.-30 others(51): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 273 | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108443350 | A | AACACACA others(35): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 364 | 0.0028 | 42 | c.-30 others(51): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 273 | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108443350 | A | AACACACA others(35): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 364 | 0.0028 | 42 | c.-30 others(51): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 273 | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108443350 | A | AACACACA others(35): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0045 | 1 | 364 | 0.0028 | 42 | c.-30 others(51): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 273 | chr8 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 410 | 0.0024 | 42 | c.356 others(59): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 410 | 0.0024 | 42 | c.356 others(59): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 358 | 0.0028 | 42 | c.26- others(55): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42325602 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0229 | 1 | 358 | 0.0028 | 42 | c.224 others(57): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0025 | a0001c0001t0001g0225a0001c0001t0001g0244a0001c0006t0025g0212others(1): Show | 4 | 264 | 0.0152 | 42 | c.243 others(61): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0264 | 1 | 264 | 0.0038 | 42 | c.243 others(61): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ENKUR_chr10_24976985_25021158 | 24988338 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0006 | a0005c0006t0019 | a0005c0006t0019g0244 | 1 | 384 | 0.0026 | 42 | c.594 others(59): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ENKUR_chr10_24976985_25021158 | 24997807 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0006 | a0005c0006t0019 | a0005c0006t0019g0244 | 1 | 384 | 0.0026 | 42 | c.223 others(59): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 666903 | A | AGATGGAG others(35): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 NA19003.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0022 | a0001c0001t0008g0007a0001c0001t0008g0242a0001c0001t0022g0014 | 3 | 418 | 0.0072 | 42 | c.*74 others(53): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3414 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667203 | T | TGATGGTG others(35): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0260 | 1 | 418 | 0.0024 | 42 | c.*71 others(53): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3114 | chr18 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0125 | 1 | 430 | 0.0023 | 42 | c.253 others(57): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00639.hp1 others(22): Show |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0001a0003c0005t0002 | a0002c0001t0001g0015a0002c0001t0001g0056a0002c0001t0001g0057others(15): Show | 25 | 430 | 0.0581 | 42 | c.253 others(57): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENTR1_chr9_136396922_136415614 | 136403469 | A | AAGAAAGG others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 412 | 0.0024 | 42 | c.120 others(59): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5499829 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02886.hp1 NA18964.hp1 |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0001a0001c0002t0002a0007c0011t0002 | a0001c0001t0001g0134a0001c0002t0002g0177a0007c0011t0002g0050 | 3 | 222 | 0.0135 | 42 | c.-11 others(61): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935438 | A | AACACACA others(35): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222a0001c0001t0002g0232 | 2 | 312 | 0.0064 | 42 | c.-8+ others(59): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(35): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 312 | 0.0032 | 42 | c.-8+ others(59): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(35): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 312 | 0.0032 | 42 | c.-8+ others(59): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161 | 1 | 294 | 0.0034 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0191 | 1 | 294 | 0.0034 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0230a0001c0001t0009g0212 | 2 | 294 | 0.0068 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGG others(35): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 294 | 0.0034 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(35): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0274 | 1 | 294 | 0.0034 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(35): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 294 | 0.0034 | 42 | c.159 others(59): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65574697 | T | TATACACA others(35): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0003 | 1 | 234 | 0.0043 | 42 | c.910 others(61): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754933 | G | GGGGCAGG others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(212): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0016others(212): Show | 215 | 248 | 0.8669 | 42 | c.62- others(59): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142a0001c0001t0002g0300 | 2 | 358 | 0.0056 | 42 | c.432 others(59): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03486.hp2 HG04228.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0140a0001c0001t0002g0305a0002c0003t0002g0201others(1): Show | 4 | 358 | 0.0112 | 42 | c.432 others(59): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 720978 | G | GCCCGGCA others(35): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 406 | 0.0025 | 42 | c.557 others(55): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPS8L2_chr11_701231_732727 | 720978 | G | GCCGGCAG others(35): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02615.hp2 NA19080.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0003a0002c0009t0001 | a0001c0001t0001g0171a0001c0001t0003g0101a0002c0009t0001g0365 | 3 | 406 | 0.0074 | 42 | c.558 others(55): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42965679 | G | GTCCCTCT others(35): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0229 | 1 | 352 | 0.0028 | 42 | c.332 others(59): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211580800 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0001 | a0001c0001t0029g0054a0001c0002t0001g0036 | 2 | 56 | 0.0357 | 42 | c.230 others(63): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | 42 | c.421 others(61): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65977958 | G | GGGGAGAG others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0223 | 1 | 306 | 0.0033 | 42 | c.-57 others(61): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121677 | A | ATCTCTAT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0142 | 1 | 162 | 0.0062 | 42 | c.156 others(61): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121939 | C | CTCTATCT others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01081.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(9): Show | a0001c0001t0008g0010a0001c0001t0010g0009a0001c0001t0013g0005others(9): Show | 12 | 162 | 0.0741 | 42 | c.156 others(61): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1144614 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0039others(4): Show | a0002c0002t0001g0149a0002c0002t0001g0152a0002c0002t0006g0122others(6): Show | 9 | 162 | 0.0556 | 42 | c.173 others(61): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |