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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CANT1_chr17_78986716_79014764 | 79004465 | G | GGAGGGGG others(277): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0169 |
3 | 394 | 0.0076 | 284 | c.-14 others(303): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CCKAR_chr4_26476396_26495484 | 26484866 | A | ACCCAATC others(277): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 454 | 0.0022 | 284 | c.626 others(299): Show |
CCKAR | ENSG00000163394.6 | transcript | ENST00000295589.4 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CCSER2_chr10_84323589_84523517 | 84501838 | T | TATATATA others(277): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01261.hp2 HG03490.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016 | a0002c0002t0003g0107 a0002c0002t0003g0109 a0002c0002t0003g0110 others(1): Show |
4 | 370 | 0.0108 | 284 | c.232 others(305): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(277): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0101 | 1 | 424 | 0.0024 | 284 | c.774 others(299): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(277): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 442 | 0.0023 | 284 | c.*27 others(295): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(277): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 442 | 0.0023 | 284 | c.*27 others(295): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(277): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 | 1 | 442 | 0.0023 | 284 | c.*27 others(295): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61282945 | G | GTGTGTGA others(277): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0100 | 1 | 106 | 0.0094 | 284 | c.169 others(303): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61383629 | A | ATCTATAT others(277): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02922.hp1 HG04204.hp2 |
a0001a0002 | a0001c0007a0002c0004a0002c0009 | a0001c0007t0010a0002c0004t0033a0002c0009t0034 | a0001c0007t0010g0018 a0002c0004t0033g0095 a0002c0009t0034g0009 |
3 | 106 | 0.0283 | 284 | c.169 others(305): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CTCTCCTT others(277): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 236 | 0.0042 | 284 | c.321 others(303): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20356977 | T | TGTGAGTG others(277): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0070 | 1 | 236 | 0.0042 | 284 | c.351 others(303): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(277): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 254 | 0.0039 | 284 | c.131 others(303): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(277): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 372 | 0.0027 | 284 | c.894 others(299): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124860414 | C | CCCTTCCT others(277): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 64 | 0.0156 | 284 | c.321 others(303): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500881 | T | TGTTGGGT others(277): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0012 | a0012c0092 | a0012c0092t0002 | a0012c0092t0002g0006 | 1 | 292 | 0.0034 | 284 | c.268 others(303): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68700380 | C | CAAAACAT others(277): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0228 a0001c0001t0002g0080 others(5): Show |
8 | 256 | 0.0313 | 284 | c.333 others(301): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92120589 | G | GTCCGCCC others(277): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 388 | 0.0026 | 284 | c.-16 others(295): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1379 | chr14 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88428992 | T | TAAAATTT others(277): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG03017.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0207 others(8): Show |
13 | 386 | 0.0337 | 284 | c.-27 others(305): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88428992 | T | TAAAATTT others(277): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG03209.hp2 |
a0006a0007 | a0006c0008a0007c0009 | a0006c0008t0001a0007c0009t0001 | a0006c0008t0001g0150 a0007c0009t0001g0011 a0007c0009t0001g0012 |
3 | 386 | 0.0078 | 284 | c.-27 others(305): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6421307 | T | TCAGCGCG others(277): Show |
intron_variant | MODIFIER | NA18955.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0007 | a0001c0001t0004g0361 a0002c0003t0007g0005 |
2 | 380 | 0.0053 | 284 | c.121 others(301): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
DCAF7_chr17_63545477_63599266 | 63547442 | G | GAAAAGGA others(277): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0200 | 1 | 262 | 0.0038 | 284 | c.-32 others(295): Show |
DCAF7 | ENSG00000136485.16 | transcript | ENST00000614556.5 | protein_coding | 3034 | chr17 | TogoVar | |||||||
DCAF7_chr17_63545477_63599266 | 63547442 | G | GAAAAGGA others(277): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(232): Show |
260 | 262 | 0.9924 | 284 | c.-32 others(295): Show |
DCAF7 | ENSG00000136485.16 | transcript | ENST00000614556.5 | protein_coding | 3034 | chr17 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251046 | A | AAATCCCC others(277): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0067 | 1 | 116 | 0.0086 | 284 | c.207 others(303): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135097 | G | GCTCCTCC others(277): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 5 | 334 | 0.0150 | 284 | c.*41 others(295): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1496 | chr12 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(277): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 367 | 0.0027 | 284 | c.-42 others(295): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211296 | A | ATTTACTC others(277): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0138 | 1 | 148 | 0.0068 | 284 | c.212 others(305): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33010062 | A | ATGTACAC others(277): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0016 | a0002c0016t0009 | a0002c0016t0009g0014 | 1 | 126 | 0.0079 | 284 | c.93+ others(301): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127362836 | T | TACACATG others(277): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03098.hp1 |
a0001a0003 | a0001c0012a0003c0003 | a0001c0012t0002a0003c0003t0003 | a0001c0012t0002g0115 a0001c0012t0002g0116 a0003c0003t0003g0088 |
3 | 136 | 0.0221 | 284 | c.343 others(301): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 33/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127362836 | T | TACACATG others(277): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 136 | 0.0074 | 284 | c.343 others(301): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 33/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634594 | T | TCCCTTCC others(277): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 250 | 0.0040 | 284 | c.105 others(301): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634658 | C | CCCCTTCC others(277): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01256.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0016others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0016t0001others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0180 a0002c0002t0001g0032 others(12): Show |
15 | 250 | 0.0600 | 284 | c.105 others(301): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(277): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 356 | 0.0028 | 284 | c.-24 others(301): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENTR1_chr9_136396922_136415614 | 136403290 | G | GGGGTCCC others(277): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 412 | 0.0024 | 284 | c.120 others(301): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1121741 | A | ATCTCTAT others(277): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0059 | 1 | 162 | 0.0062 | 284 | c.156 others(303): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238119564 | A | ATGGATGG others(277): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0074 | 1 | 408 | 0.0025 | 284 | c.987 others(301): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154196 | G | GAGGAGGG others(277): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272 | 1 | 412 | 0.0024 | 284 | c.*46 others(295): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4668 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154196 | G | GAGGCGGG others(277): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 HG02080.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 a0001c0002t0001g0171 a0001c0002t0001g0244 |
3 | 412 | 0.0073 | 284 | c.*46 others(295): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4668 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154196 | G | GAGGCGGG others(277): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0365 | 1 | 412 | 0.0024 | 284 | c.*46 others(295): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4668 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(277): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01358.hp2 HG01943.hp1 others(14): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0011a0001c0001t0045a0001c0001t0064others(12): Show | a0001c0001t0011g0001 a0001c0001t0045g0019 a0001c0001t0064g0026 others(14): Show |
17 | 218 | 0.0780 | 284 | c.-23 others(303): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FGF22_chr19_634879_649373 | 642276 | A | ATGGGGTG others(277): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 434 | 0.0023 | 284 | c.215 others(299): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(277): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0251 | 1 | 370 | 0.0027 | 284 | c.189 others(303): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FIRRM_chr1_169790040_169859080 | 169811811 | G | GATTATCT others(277): Show |
intron_variant | MODIFIER | HG02129.hp2 HG04204.hp2 NA18947.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 a0001c0001t0004g0260 a0001c0001t0004g0268 others(2): Show |
6 | 420 | 0.0143 | 284 | c.702 others(301): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(277): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 1 | 406 | 0.0025 | 284 | c.*33 others(295): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(277): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0000 | 1 | 406 | 0.0025 | 284 | c.*33 others(295): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(277): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0026 | a0026c0015 | a0026c0015t0001 | a0026c0015t0001g0000 | 1 | 406 | 0.0025 | 284 | c.*33 others(295): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(277): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 | 1 | 364 | 0.0028 | 284 | c.-20 others(293): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157276780 | T | TTCATTGA others(277): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0088a0001c0002t0078a0001c0002t0086 | a0001c0001t0088g0246 a0001c0002t0078g0247 a0001c0002t0086g0248 |
3 | 282 | 0.0106 | 284 | c.145 others(303): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115696852 | G | GACAGAGT others(277): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 352 | 0.0028 | 284 | c.628 others(303): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11804201 | A | ATGGAACA others(277): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0131 | 1 | 248 | 0.0040 | 284 | c.625 others(303): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804201 | A | ATGGAACA others(277): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0036 | 1 | 284 | 0.0035 | 284 | c.394 others(303): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |