| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCGF3_chr4_700832_775089 | 745781 | CCCCGGGG others(788): Show |
C | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0129 | 1 | 366 | 0.0027 | -795 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745838 | CCCGGGGG others(788): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 366 | 0.0027 | -795 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1888894 | GAGTTGGG others(787): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0012 | a0012c0130 | a0012c0130t0073 | a0012c0130t0073g0342 | 1 | 363 | 0.0028 | -794 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1888905 | GGGTTGTG others(787): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(43): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0008others(32): Show | a0001c0001t0004a0001c0002t0003a0001c0008t0002others(36): Show | a0001c0001t0004g0165a0001c0002t0003g0166a0001c0008t0002g0277others(42): Show | 46 | 363 | 0.1267 | -794 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COMMD1_chr2_61900674_62141058 | 62123224 | GGCCAGGC others(787): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0125a0001c0001t0001g0232 | 3 | 286 | 0.0105 | -794 | c.463 others(19): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| JUND_chr19_18274694_18286622 | 18283330 | TGAGAATC others(787): Show |
T | upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | -794 | c.-26 others(11): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1709 | chr19 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393439 | GAAGCCGG others(787): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG04228.hp2 NA18998.hp1 |
a0001a0009 | a0001c0001a0001c0002a0009c0050 | a0001c0001t0040a0001c0002t0105a0009c0050t0009 | a0001c0001t0040g0191a0001c0002t0105g0289a0009c0050t0009g0066 | 3 | 346 | 0.0087 | -794 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| AKNAD1_chr1_108810901_108862094 | 108824397 | CTCATGGT others(786): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0031 | a0004c0006a0004c0008a0004c0043others(2): Show | a0004c0006t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0006t0001g0018a0004c0006t0001g0026a0004c0006t0001g0028others(23): Show | 32 | 398 | 0.0804 | -793 | c.193 others(18): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735986 | GGTTCTGG others(786): Show |
G | exon_loss_variant | HIGH | HG02074.hp2 | a0016 | a0016c0025 | a0016c0025t0001 | a0016c0025t0001g0134 | 1 | 342 | 0.0029 | -793 | c.136 others(17): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/21 | chr19 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 409154 | GAGATCAC others(786): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0012 | a0006c0006t0011g0103a0006c0006t0011g0106a0006c0006t0012g0104others(1): Show | 4 | 432 | 0.0093 | -793 | c.-16 others(14): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1256410 | TCTCAGAC others(786): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp2 HG02129.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0057a0001c0001t0086others(10): Show | a0001c0001t0011g0034a0001c0001t0057g0156a0001c0001t0086g0060others(10): Show | 13 | 162 | 0.0803 | -793 | c.248 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RRM1_chr11_4089799_4143932 | 4136184 | AGTTTGAT others(786): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0328 | 1 | 368 | 0.0027 | -793 | c.219 others(18): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 18/18 | chr11 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070575 | GAGCCCCC others(786): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 118 | 0.0085 | -793 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| WDR88_chr19_33127114_33180799 | 33160969 | TGAGACCA others(786): Show |
T | intron_variant | MODIFIER | NA18747.hp1 NA18966.hp2 NA19003.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256a0001c0001t0001g0274a0001c0001t0001g0281others(2): Show | 5 | 358 | 0.0140 | -793 | c.108 others(18): Show |
WDR88 | ENSG00000166359.11 | transcript | ENST00000355868.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393439 | GAAGCCGG others(786): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001a0014 | a0001c0005a0014c0040 | a0001c0005t0104a0014c0040t0027 | a0001c0005t0104g0074a0014c0040t0027g0131 | 2 | 346 | 0.0058 | -793 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128453 | CCACCGTC others(785): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02300.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183a0001c0001t0004g0189a0001c0001t0004g0191 | 3 | 326 | 0.0092 | -792 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44801096 | CAGGAGTC others(785): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 344 | 0.0029 | -792 | c.*55 others(10): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 445 | chr19 | TogoVar | ||||||
| DAPK1_chr9_87492867_87713634 | 87651799 | CCTCTCAC others(785): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 |
a0004 | a0004c0013a0004c0018 | a0004c0013t0001a0004c0018t0001 | a0004c0013t0001g0223a0004c0018t0001g0110 | 2 | 236 | 0.0085 | -792 | c.182 others(17): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565807 | GTGACTCT others(785): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 340 | 0.0029 | -792 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79474006 | TCACTGTC others(785): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0279 | 1 | 322 | 0.0031 | -792 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PLIN4_chr19_4497192_4523486 | 4511635 | CTTCACAG others(785): Show |
C | disruptive_inframe_deletion | MODERATE | NA19057.hp2 | a0071 | a0071c0101 | a0071c0101t0001 | a0071c0101t0001g0131 | 1 | 412 | 0.0024 | -792 | c.153 others(9): Show |
p.Asn others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2443/6502 | 1533/4116 | 511/1371 | chr19 | TogoVar | ||
| RAP1GAP2_chr17_2791438_3042741 | 3000440 | GCAGAAGA others(785): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02723.hp2 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0062a0001c0002t0007a0001c0002t0085 | a0001c0001t0062g0215a0001c0002t0007g0187a0001c0002t0085g0026 | 3 | 218 | 0.0138 | -792 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000503 | AATCAGCC others(785): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0098a0001c0005t0127 | a0001c0001t0098g0051a0001c0005t0127g0072 | 2 | 218 | 0.0092 | -792 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897411 | TCAGTCAG others(785): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02148.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 3 | 402 | 0.0075 | -792 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 898071 | TCAGTCAG others(785): Show |
T | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 402 | 0.0025 | -792 | c.388 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ZCCHC2_chr18_62518025_62583579 | 62580677 | CGAGACGG others(785): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02809.hp1 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0009a0002c0002t0009 | a0001c0003t0009g0221a0001c0003t0009g0222a0001c0003t0009g0297others(2): Show | 5 | 312 | 0.0160 | -792 | c.*40 others(11): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 2099 | chr18 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117861583 | CTCCCAGG others(784): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0047a0001c0003t0002g0098a0001c0003t0002g0106others(8): Show | 11 | 190 | 0.0579 | -791 | c.963 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| GALNT5_chr2_157252705_157323491 | 157262484 | AAAAATTA others(784): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0088a0001c0002t0078a0001c0002t0086 | a0001c0001t0088g0246a0001c0002t0078g0247a0001c0002t0086g0248 | 3 | 282 | 0.0106 | -791 | c.145 others(19): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ROBO2_chr3_77035099_77654964 | 77293918 | CAGACATA others(784): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0156 | 1 | 160 | 0.0063 | -791 | c.389 others(21): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(783): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0151 | 1 | 320 | 0.0031 | -790 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128457 | CGTCACCC others(783): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0085a0001c0001t0006g0088a0001c0001t0006g0089others(4): Show | 7 | 326 | 0.0215 | -790 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| GABRG3_chr15_26966181_27546984 | 27305776 | CTATATGT others(783): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03471.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0014others(1): Show | a0001c0004t0011a0001c0006t0013a0001c0014t0024others(1): Show | a0001c0004t0011g0078a0001c0006t0013g0017a0001c0014t0024g0057others(1): Show | 4 | 92 | 0.0435 | -790 | c.271 others(19): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| DDX6_chr11_118742763_118796164 | 118795375 | ACCTGTAA others(782): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 370 | 0.0027 | -789 | c.-53 others(11): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 4212 | chr11 | TogoVar | ||||||
| ENTPD8_chr9_137429364_137446357 | 137440412 | CCCCCCAG others(782): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0152 | 1 | 392 | 0.0026 | -789 | c.-21 others(14): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1627917 | GTGAGGCG others(782): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0062 | a0001c0004t0062g0046 | 1 | 352 | 0.0028 | -789 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393495 | GGGCAGGT others(782): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0151 | a0001c0002t0151g0168 | 1 | 346 | 0.0029 | -789 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZSCAN5B_chr19_56184686_56202783 | 56201994 | TAAAACTT others(782): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03209.hp2 others(1): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0040a0008c0008t0001g0041 | 4 | 470 | 0.0085 | -789 | c.-51 others(11): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 4212 | chr19 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685923 | GCCCAGCC others(781): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 362 | 0.0028 | -788 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668412 | CTCTCCCT others(781): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0173 | 1 | 262 | 0.0038 | -788 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1541958 | TGGATCAC others(780): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01884.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0009a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0009g0055a0001c0001t0018g0027a0001c0001t0022g0015others(6): Show | 9 | 106 | 0.0849 | -787 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211641 | TTTACTCT others(780): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 148 | 0.0068 | -787 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241205772 | TCTGACAG others(779): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(244): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0008others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(84): Show | a0001c0001t0001g0043a0001c0001t0001g0069a0001c0001t0001g0070others(230): Show | 247 | 396 | 0.6237 | -786 | c.980 others(15): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANO7_chr2_241183677_241230976 | 241205807 | GGTGGACA others(779): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 |
a0009a0013 | a0009c0017a0013c0040 | a0009c0017t0008a0013c0040t0001 | a0009c0017t0008g0092a0013c0040t0001g0096 | 2 | 396 | 0.0051 | -786 | c.980 others(15): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCDC200_chr17_43216420_43233623 | 43232837 | GCCCTGGT others(779): Show |
G | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 334 | 0.0030 | -786 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4215 | chr17 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211599 | TTACTCTC others(779): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 148 | 0.0068 | -786 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960628 | GACAGACT others(779): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0030 | 1 | 294 | 0.0034 | -786 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(779): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0227 | 1 | 244 | 0.0041 | -786 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288890 | TGTCCCTG others(779): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0116 | 1 | 290 | 0.0035 | -786 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| THADA_chr2_43225851_43601038 | 43429157 | GAGTGCAG others(779): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 206 | 0.0049 | -786 | c.392 others(17): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 27/37 | chr2 | TogoVar | ||||||
| BCAR1_chr16_75223181_75256624 | 75231182 | TGCCTCCT others(778): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0250 | 1 | 392 | 0.0026 | -785 | c.210 others(19): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 6/6 | chr16 | TogoVar |