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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLIC5_chr6_45893456_46020860 | 46016093 | GAAGGGGA others(68): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0042 | a0001c0001t0003g0010 a0001c0001t0008g0011 a0001c0001t0042g0008 |
3 | 340 | 0.0088 | -75 | c.-62 others(84): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 234 | chr6 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596897 | CCTGCAGG others(68): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0006t0004 | a0001c0001t0001g0238 a0001c0001t0004g0310 a0001c0001t0004g0311 others(4): Show |
7 | 414 | 0.0169 | -75 | c.-36 others(84): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 90 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596917 | GGCGTCTG others(68): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01361.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0035 a0001c0001t0003g0106 a0001c0001t0003g0107 others(7): Show |
10 | 414 | 0.0242 | -75 | c.-34 others(84): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 1/10 | 21009 | chr18 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40983828 | ATATATGC others(68): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0018 | 1 | 230 | 0.0044 | -75 | c.196 others(94): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43734187 | GAAGTGAA others(68): Show |
G | upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 384 | 0.0026 | -75 | c.-48 others(86): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4665 | chr7 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69344489 | GTGGCCGG others(68): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0118 | 1 | 360 | 0.0028 | -75 | c.-50 others(86): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4926 | chr16 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101489707 | TTCTTTCA others(68): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0010 | a0003c0010t0027 | a0003c0010t0027g0172 | 1 | 174 | 0.0058 | -75 | c.385 others(94): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489711 | TTCATTCT others(68): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0012 | a0001c0001t0002g0074 a0001c0005t0012g0146 |
2 | 174 | 0.0115 | -75 | c.385 others(94): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253264 | TATATACA others(68): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0204 | 1 | 344 | 0.0029 | -75 | c.85- others(92): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253414 | CATATACA others(68): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03579.hp1 |
a0002 | a0002c0004a0002c0023 | a0002c0004t0001a0002c0023t0003 | a0002c0004t0001g0252 a0002c0023t0003g0239 |
2 | 344 | 0.0058 | -75 | c.85- others(92): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 462507 | GGAAGGGT others(68): Show |
G | intron_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0002 | a0003c0002t0122 | a0003c0002t0122g0252 | 1 | 366 | 0.0027 | -75 | c.58+ others(92): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240907969 | GGGTGACC others(68): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01952.hp2 HG01978.hp2 others(14): Show |
a0001a0007a0010others(6): Show | a0001c0001a0007c0007a0010c0010others(6): Show | a0001c0001t0001a0001c0001t0003a0007c0007t0001others(8): Show | a0001c0001t0001g0191 a0001c0001t0003g0196 a0007c0007t0001g0193 others(14): Show |
17 | 350 | 0.0486 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908075 | GCTCTACC others(68): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0019 | a0019c0017 | a0019c0017t0002 | a0019c0017t0002g0240 | 1 | 350 | 0.0029 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908375 | GCTCTACC others(68): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02129.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0002a0001c0022t0002 | a0001c0001t0002g0267 a0001c0022t0002g0343 |
2 | 350 | 0.0057 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908550 | GCTCTACC others(68): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0338 | 1 | 350 | 0.0029 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908925 | GCTCTACC others(68): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01074.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0020a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0020t0002others(6): Show | a0001c0001t0002g0273 a0001c0001t0004g0271 a0001c0020t0002g0263 others(18): Show |
21 | 350 | 0.0600 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908994 | GGGTGACC others(68): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA18906.hp2 |
a0001a0019 | a0001c0001a0019c0017 | a0001c0001t0002a0019c0017t0002 | a0001c0001t0002g0312 a0019c0017t0002g0242 |
2 | 350 | 0.0057 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240909225 | GCTCTACC others(68): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0020a0001c0060others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0020t0001others(21): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(54): Show |
59 | 350 | 0.1686 | -75 | c.78+ others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240916472 | TGCCCCCG others(68): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01515.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0035 a0005c0005t0001g0036 |
2 | 350 | 0.0057 | -75 | c.79- others(90): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666992 | AAAGAAAG others(68): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0016a0002c0003t0004 | a0001c0002t0005g0172 a0001c0002t0016g0162 a0001c0002t0016g0173 others(2): Show |
5 | 238 | 0.0210 | -75 | c.-39 others(96): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1967725 | GCTCCTCC others(68): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0011 | a0002c0011t0025 | a0002c0011t0025g0013 | 1 | 382 | 0.0026 | -75 | c.-26 others(94): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CST2_chr20_23818769_23831729 | 23826300 | AGTCAGGG others(68): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 470 | 0.0021 | -75 | c.228 others(89): Show |
CST2 | ENSG00000170369.4 | transcript | ENST00000304725.3 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561001 | TTCCTTCC others(68): Show |
T | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 392 | 0.0026 | -75 | c.*38 others(86): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3730 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561009 | TTCCTTCC others(68): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 392 | 0.0026 | -75 | c.*38 others(86): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3722 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561023 | CTTTCCTT others(68): Show |
C | downstream_gene_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 392 | 0.0026 | -75 | c.*38 others(86): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3708 | chr20 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79691543 | GGGGGAGG others(68): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 378 | 0.0027 | -75 | c.315 others(92): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138772789 | GGGATTTG others(68): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(176): Show |
179 | 180 | 0.9944 | -75 | c.-2- others(90): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CTTNBP2_chr7_117705651_117878441 | 117864843 | CTATATTC others(68): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0044 | 1 | 164 | 0.0061 | -75 | c.82- others(90): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22964278 | ACACACAC others(68): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01358.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0006a0002c0008t0001 | a0001c0002t0006g0103 a0002c0008t0001g0083 |
2 | 342 | 0.0059 | -75 | c.-7+ others(92): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYLC2_chr9_102990333_103023488 | 103015078 | AATATACA others(68): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(414): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(321): Show |
417 | 448 | 0.9308 | -75 | c.*81 others(94): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269085 | TATATATT others(68): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 a0001c0002t0002g0055 a0001c0002t0002g0056 |
4 | 240 | 0.0167 | -75 | c.*35 others(86): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2382 | chrX | TogoVar | |||||||
DEF8_chr16_89943755_89973060 | 89948839 | TCGGGGCC others(68): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0011a0001c0002t0024others(2): Show | a0001c0001t0001g0085 a0001c0002t0011g0213 a0001c0002t0024g0212 others(2): Show |
5 | 392 | 0.0128 | -75 | c.-10 others(91): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DEF8_chr16_89943755_89973060 | 89948880 | GGGGACGG others(68): Show |
G | intron_variant | MODIFIER | NA18998.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 2 | 392 | 0.0051 | -75 | c.-10 others(91): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DEF8_chr16_89943755_89973060 | 89948910 | AGGGACGG others(68): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0004g0009 others(2): Show |
11 | 392 | 0.0281 | -75 | c.-10 others(92): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DEF8_chr16_89943755_89973060 | 89949004 | TCGGGGCT others(68): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02015.hp1 HG02015.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0016 | a0001c0001t0002g0003 a0001c0001t0002g0093 a0001c0001t0002g0183 others(10): Show |
30 | 392 | 0.0765 | -75 | c.-10 others(92): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51774442 | TCTCCTAC others(68): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0176 | 1 | 420 | 0.0024 | -75 | c.364 others(90): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775542 | TCTCCTAC others(68): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01515.hp1 HG01981.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0004c0008t0002 | a0001c0001t0002g0056 a0001c0001t0002g0318 a0004c0008t0002g0270 |
3 | 420 | 0.0071 | -75 | c.363 others(92): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228024 | GGGAGGGA others(68): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 50 | 0.0200 | -75 | c.805 others(92): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 418193 | GCGCGGAC others(68): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 88 | 0.0114 | -75 | c.739 others(90): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608290 | ACACACAG others(68): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 88 | 0.0114 | -75 | c.85+ others(92): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DKK3_chr11_11958036_12013626 | 11961182 | CTGTGATT others(68): Show |
C | downstream_gene_variant | MODIFIER | NA18979.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0072 |
2 | 416 | 0.0048 | -75 | c.*32 others(86): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 1853 | chr11 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55159763 | AGGGAGGA others(68): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0086 | 1 | 398 | 0.0025 | -75 | c.116 others(91): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 10/11 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911826 | GGGGGGTC others(68): Show |
G | intron_variant | MODIFIER | HG03492.hp1 HG04228.hp1 |
a0002a0064 | a0002c0093a0064c0045 | a0002c0093t0002a0064c0045t0002 | a0002c0093t0002g0134 a0064c0045t0002g0111 |
2 | 170 | 0.0118 | -75 | c.101 others(96): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577602 | CCTACACA others(68): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG01975.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0372 a0001c0001t0037g0373 a0001c0001t0037g0376 |
3 | 426 | 0.0070 | -75 | c.*63 others(84): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 630 | chr21 | TogoVar | ||||||
DTWD1_chr15_49616048_49661232 | 49660315 | GCCTACCT others(68): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | -75 | c.*16 others(88): Show |
DTWD1 | ENSG00000104047.15 | transcript | ENST00000403028.8 | protein_coding | 4084 | chr15 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107591882 | ATATATAT others(68): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0166 | 1 | 190 | 0.0053 | -75 | c.125 others(94): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819059 | GGGAGGGG others(68): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0086 a0001c0001t0006g0087 |
2 | 258 | 0.0078 | -75 | c.-85 others(94): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927990 | ATGGTGGT others(68): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0173 | 1 | 288 | 0.0035 | -75 | c.190 others(94): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796892 | TTATATAT others(68): Show |
T | upstream_gene_variant | MODIFIER | HG02293.hp1 | a0007 | a0007c0015 | a0007c0015t0007 | a0007c0015t0007g0079 | 1 | 332 | 0.0030 | -75 | c.-44 others(86): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3940 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667388 | TGATGGAG others(68): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 418 | 0.0024 | -75 | c.*68 others(86): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2929 | chr18 | TogoVar |