| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP4F8_chr19_15610218_15635639 | 15616212 | T | TCACTCAC others(241): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0170 | 1 | 412 | 0.0024 | 248 | c.198 others(263): Show |
CYP4F8 | ENSG00000186526.13 | transcript | ENST00000612078.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DAGLB_chr7_6404129_6452954 | 6421307 | T | TCAGCGCG others(241): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02723.hp2 HG03209.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0336a0001c0010t0001g0337a0002c0003t0001g0036others(3): Show | 6 | 380 | 0.0158 | 248 | c.121 others(265): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132136117 | T | TCCTCCCA others(241): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 248 | c.*31 others(259): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 476 | chr12 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 665002 | C | CGTCACAC others(241): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 | 1 | 345 | 0.0029 | 248 | c.150 others(267): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 665021 | G | GAGTCCTG others(241): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0201a0001c0002t0001g0207a0001c0002t0001g0211others(9): Show | 13 | 345 | 0.0377 | 248 | c.150 others(267): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51774349 | T | TGTATTCT others(241): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 420 | 0.0024 | 248 | c.364 others(263): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(241): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00733.hp1 others(24): Show |
a0001a0002a0004others(10): Show | a0001c0007a0001c0022a0001c0036others(16): Show | a0001c0007t0002a0001c0022t0001a0001c0036t0001others(17): Show | a0001c0007t0002g0075a0001c0007t0002g0259a0001c0007t0002g0262others(24): Show | 27 | 284 | 0.0951 | 248 | c.124 others(269): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(241): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02523.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0191a0001c0001t0001g0326others(5): Show | 8 | 336 | 0.0238 | 248 | c.*19 others(259): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157369677 | T | TATTATTA others(241): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0341 | 1 | 372 | 0.0027 | 248 | c.346 others(265): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAJB6_chr7_157332004_157422439 | 157369677 | T | TATTATTA others(241): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 372 | 0.0027 | 248 | c.346 others(265): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DOK7_chr4_3458306_3499482 | 3490110 | C | CCATTCAT others(241): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0320 | 1 | 404 | 0.0025 | 248 | c.772 others(263): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(241): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0085 | 1 | 250 | 0.0040 | 248 | c.105 others(263): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DYM_chr18_49031387_49465645 | 49440554 | A | AATATATG others(241): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 | 1 | 290 | 0.0035 | 248 | c.-53 others(267): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(241): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 378 | 0.0027 | 248 | c.304 others(265): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ESR2_chr14_64223317_64299371 | 64224413 | A | ATGCATGA others(241): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0027 | a0001c0001t0016g0354a0001c0001t0027g0358 | 2 | 368 | 0.0054 | 248 | c.*87 others(259): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 3903 | chr14 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 267528 | A | ACACACAC others(241): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(81): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0024others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0202a0001c0001t0001g0203others(76): Show | 84 | 408 | 0.2059 | 248 | c.*25 others(259): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1433 | chr16 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 267528 | A | ACACACAC others(241): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 408 | 0.0025 | 248 | c.*25 others(259): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1433 | chr16 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 267528 | A | ACACACAC others(241): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03195.hp2 |
a0001a0011 | a0001c0002a0011c0028 | a0001c0002t0002a0011c0028t0002 | a0001c0002t0002g0062a0011c0028t0002g0256 | 2 | 408 | 0.0049 | 248 | c.*25 others(259): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1433 | chr16 | TogoVar | ||||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(241): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01071.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0002g0043a0001c0001t0004g0129a0001c0001t0005g0036others(21): Show | 24 | 218 | 0.1101 | 248 | c.-23 others(267): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(241): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0015others(5): Show | a0001c0001t0004g0204a0001c0001t0007g0016a0001c0001t0015g0154others(5): Show | 8 | 218 | 0.0367 | 248 | c.-23 others(267): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(241): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132a0001c0001t0005g0168 | 2 | 430 | 0.0047 | 248 | c.-39 others(265): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FMN1_chr15_32760544_33199714 | 32777932 | C | CATTTATT others(241): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0103 | 1 | 196 | 0.0051 | 248 | c.413 others(267): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
| FMN1_chr15_32760544_33199714 | 32777932 | C | CATTTATT others(241): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0018 | a0004c0018t0080 | a0004c0018t0080g0086 | 1 | 196 | 0.0051 | 248 | c.413 others(267): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12331808 | T | TATTTATA others(241): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0060 | 1 | 174 | 0.0058 | 248 | c.42- others(267): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FTCD_chr21_46131779_46160579 | 46145757 | T | TTCCCCCT others(241): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00738.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0008a0001c0001t0009a0001c0002t0002others(7): Show | a0001c0001t0008g0211a0001c0001t0009g0094a0001c0002t0002g0003others(10): Show | 14 | 230 | 0.0609 | 248 | c.109 others(263): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | ||||||
| GABRB3_chr15_26538552_26778066 | 26716752 | A | AACAGCCC others(241): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 204 | 0.0049 | 248 | c.240 others(267): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
| GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(241): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0031 | 1 | 364 | 0.0028 | 248 | c.-20 others(257): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
| GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(241): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 2 | 364 | 0.0055 | 248 | c.-20 others(257): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(241): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 248 | c.-41 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777712 | C | CCTCCATC others(241): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3501 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(241): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0006 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(241): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(241): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0013 | a0001c0001t0003g0002a0001c0001t0004g0002a0001c0001t0013g0022 | 16 | 444 | 0.0360 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(241): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777729 | A | ATTCACAA others(241): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3484 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777729 | A | ATTCACAA others(241): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA18949.hp1 NA18955.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0012g0001 | 9 | 444 | 0.0203 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3484 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCACC others(241): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCATC others(241): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009a0001c0001t0006g0011 | 5 | 444 | 0.0113 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | ||||||
| GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCATC others(241): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 444 | 0.0023 | 248 | c.-40 others(259): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308404 | T | TCATCACC others(241): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 | 1 | 422 | 0.0024 | 248 | c.961 others(265): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GMDS_chr6_1618806_2250605 | 1897923 | A | ACCCTTGC others(241): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 166 | 0.0060 | 248 | c.771 others(267): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1898047 | T | TCCCTTGC others(241): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 166 | 0.0060 | 248 | c.771 others(267): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1898140 | T | TCCCTTGC others(241): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 166 | 0.0060 | 248 | c.771 others(267): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1898140 | T | TCCCTTGC others(241): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02273.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0145a0001c0002t0002g0144 | 2 | 166 | 0.0121 | 248 | c.771 others(267): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1898140 | T | TCCGTTGC others(241): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 166 | 0.0060 | 248 | c.771 others(267): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 66683359 | T | TGTTCATA others(241): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 234 | 0.0043 | 248 | c.143 others(265): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | chr14 | TogoVar | ||||||
| GPR137B_chr1_236137539_236213907 | 236186262 | T | TTATATAT others(241): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 386 | 0.0026 | 248 | c.966 others(265): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 | 1 | 418 | 0.0024 | 248 | c.167 others(265): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 | 1 | 418 | 0.0024 | 248 | c.167 others(265): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0194 | 1 | 418 | 0.0024 | 248 | c.167 others(265): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |