| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UBE3C_chr7_157133926_157274370 | 157254901 | ATACACCT others(47): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(51): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0002a0001c0001t0019a0001c0002t0002others(4): Show | a0001c0001t0002g0007a0001c0001t0002g0013a0001c0001t0002g0024others(51): Show | 54 | 322 | 0.1677 | -54 | c.295 others(71): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBE3C_chr7_157133926_157274370 | 157264408 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0012 | a0001c0012t0008 | a0001c0012t0008g0155 | 1 | 322 | 0.0031 | -54 | c.308 others(73): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBL3_chr13_29759371_29855617 | 29835075 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02293.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0349a0001c0001t0005g0350 | 2 | 392 | 0.0051 | -54 | c.27+ others(71): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| UBL3_chr13_29759371_29855617 | 29835083 | AATATAAA others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0316a0001c0001t0038g0335 | 2 | 392 | 0.0051 | -54 | c.27+ others(71): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| UBL3_chr13_29759371_29855617 | 29835089 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02970.hp1 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0107a0001c0001t0002g0315a0001c0002t0001g0183 | 3 | 392 | 0.0077 | -54 | c.27+ others(71): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| UBL3_chr13_29759371_29855617 | 29835107 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0067 | 2 | 392 | 0.0051 | -54 | c.27+ others(71): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| UGCG_chr9_111891814_111940369 | 111911975 | TATTCAAC others(47): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0344 | 1 | 424 | 0.0024 | -54 | c.99- others(69): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ULBP1_chr6_149958943_149978715 | 149965105 | CGAACATC others(47): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 440 | 0.0023 | -54 | c.85+ others(69): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ULK4_chr3_41241599_41967103 | 41856537 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01515.hp1 others(7): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0003a0002c0016others(2): Show | a0001c0001t0003a0002c0003t0001a0002c0003t0006others(3): Show | a0001c0001t0003g0069a0001c0001t0003g0070a0001c0001t0003g0072others(7): Show | 10 | 72 | 0.1389 | -54 | c.165 others(75): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | ||||||
| UMODL1_chr21_42066317_42147996 | 42146445 | AGGCTGTG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(54): Show |
a0001a0002a0003others(20): Show | a0001c0014a0001c0140a0002c0005others(30): Show | a0001c0014t0004a0001c0014t0014a0001c0140t0001others(33): Show | a0001c0014t0004g0184a0001c0014t0004g0315a0001c0014t0004g0327others(53): Show | 57 | 400 | 0.1425 | -54 | c.*43 others(65): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 3450 | chr21 | TogoVar | ||||||
| UMODL1_chr21_42066317_42147996 | 42146745 | TGTCTCTG others(47): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp2 NA18949.hp1 |
a0006a0009 | a0006c0007a0009c0018 | a0006c0007t0018a0009c0018t0018 | a0006c0007t0018g0168a0009c0018t0018g0291 | 2 | 400 | 0.0050 | -54 | c.*46 others(65): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 3750 | chr21 | TogoVar | ||||||
| UNC93A_chr6_167286315_167321014 | 167295457 | CCCTCGTG others(47): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02135.hp1 HG02155.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0013a0006c0010 | a0001c0001t0001a0001c0013t0001a0006c0010t0004 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0101others(3): Show | 6 | 448 | 0.0134 | -54 | c.270 others(69): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UNC93A_chr6_167286315_167321014 | 167295519 | CTCCTCGC others(47): Show |
C | intron_variant | MODIFIER | HG03239.hp2 HG03831.hp1 HG03927.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005 | a0001c0001t0002g0208a0001c0001t0002g0210a0002c0002t0005g0209others(1): Show | 4 | 448 | 0.0089 | -54 | c.270 others(69): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UNC93A_chr6_167286315_167321014 | 167295609 | CTCCTCGC others(47): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03486.hp2 |
a0006 | a0006c0016 | a0006c0016t0005 | a0006c0016t0005g0025 | 2 | 448 | 0.0045 | -54 | c.270 others(69): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UNC93A_chr6_167286315_167321014 | 167295619 | CCCTCGTG others(47): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02074.hp1 HG02080.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0004a0003c0003t0003others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0326a0002c0002t0004g0308others(7): Show | 13 | 448 | 0.0290 | -54 | c.270 others(69): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UNK_chr17_75779806_75830799 | 75803035 | GGCGGATC others(47): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02717.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0002a0001c0003t0004 | a0001c0001t0008g0273a0001c0003t0002g0237a0001c0003t0002g0246others(2): Show | 5 | 358 | 0.0140 | -54 | c.105 others(71): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| USF2_chr19_35263962_35284821 | 35283164 | CTACGCCG others(47): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 426 | 0.0024 | -54 | c.*39 others(65): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 3344 | chr19 | TogoVar | ||||||
| USH2A_chr1_215617891_216428448 | 215836488 | TTATATAT others(47): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG03486.hp2 |
a0032a0060 | a0032c0047a0060c0037 | a0032c0047t0003a0060c0037t0001 | a0032c0047t0003g0017a0060c0037t0001g0033 | 2 | 74 | 0.0270 | -54 | c.937 others(73): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | ||||||
| USH2A_chr1_215617891_216428448 | 215912461 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0059 | a0059c0010 | a0059c0010t0013 | a0059c0010t0013g0014 | 1 | 74 | 0.0135 | -54 | c.730 others(75): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | ||||||
| USP3_chr15_63499593_63599633 | 63547722 | TAGAGAGA others(47): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0073a0001c0001t0012g0074 | 2 | 234 | 0.0086 | -54 | c.285 others(71): Show |
USP3 | ENSG00000140455.17 | transcript | ENST00000380324.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| USP40_chr2_233470526_233571782 | 233567994 | TTATAGTT others(47): Show |
T | upstream_gene_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0151 | 1 | 324 | 0.0031 | -54 | c.-13 others(65): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 1213 | chr2 | TogoVar | ||||||
| VAMP1_chr12_6457237_6475677 | 6465360 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0026 | a0001c0002t0005g0025a0001c0002t0005g0039a0001c0002t0005g0100others(1): Show | 7 | 446 | 0.0157 | -54 | c.288 others(69): Show |
VAMP1 | ENSG00000139190.17 | transcript | ENST00000396308.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133991430 | GGCCAGGA others(47): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0096 | 1 | 200 | 0.0050 | -54 | c.204 others(69): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1/29 | chr9 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466885 | GGAGGGAG others(47): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0067 | a0067c0079 | a0067c0079t0008 | a0067c0079t0008g0001 | 1 | 271 | 0.0037 | -54 | c.*50 others(63): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 376 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467042 | AGGGAGGA others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 | a0066 | a0066c0082 | a0066c0082t0004 | a0066c0082t0004g0002 | 1 | 271 | 0.0037 | -54 | c.*66 others(63): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 533 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467071 | AGGGAGGG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG02148.hp2 others(1): Show |
a0004a0010a0055others(1): Show | a0004c0004a0010c0011a0055c0063others(1): Show | a0004c0004t0004a0010c0011t0004a0055c0063t0004others(1): Show | a0004c0004t0004g0002a0010c0011t0004g0002a0055c0063t0004g0048others(1): Show | 4 | 271 | 0.0148 | -54 | c.*68 others(63): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 562 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467100 | AGGGAGGG others(47): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 NA20129.hp2 |
a0030a0070 | a0030c0076a0070c0077 | a0030c0076t0011a0070c0077t0011 | a0030c0076t0011g0018a0070c0077t0011g0018 | 2 | 271 | 0.0074 | -54 | c.*71 others(63): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 591 | chrX | TogoVar | ||||||
| VDR_chr12_47836537_47909994 | 47859878 | CTTCCTTC others(47): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0186 | 1 | 358 | 0.0028 | -54 | c.278 others(71): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
| VDR_chr12_47836537_47909994 | 47859886 | CTTCCTTC others(47): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02976.hp1 HG03130.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0011a0004c0015t0011 | a0001c0001t0011g0213a0001c0001t0011g0214a0001c0001t0011g0215others(1): Show | 4 | 358 | 0.0112 | -54 | c.278 others(71): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
| VGLL4_chr3_11551069_11648915 | 11573263 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0281 | 1 | 388 | 0.0026 | -54 | c.273 others(71): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| VGLL4_chr3_11551069_11648915 | 11573271 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG02523.hp1 NA19055.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231a0001c0002t0002g0235 | 2 | 388 | 0.0052 | -54 | c.273 others(71): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| VGLL4_chr3_11551069_11648915 | 11573307 | GGAAGGAA others(47): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0284 | 1 | 388 | 0.0026 | -54 | c.273 others(71): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| VPS41_chr7_38717974_38914191 | 38720498 | ATATATAT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0071 | 1 | 278 | 0.0036 | -54 | c.*56 others(65): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2475 | chr7 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 504651 | GAGAGAAG others(47): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01109.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0015a0001c0001t0029a0001c0001t0033others(28): Show | a0001c0001t0015g0130a0001c0001t0015g0131a0001c0001t0015g0135others(44): Show | 47 | 232 | 0.2026 | -54 | c.*14 others(67): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4016 | chr17 | TogoVar | ||||||
| VSIG10_chr12_118058593_118109011 | 118098228 | TGCCTCTC others(47): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0008others(17): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0013others(57): Show | a0001c0002t0002g0393a0001c0002t0003g0094a0001c0002t0003g0283others(103): Show | 108 | 412 | 0.2621 | -54 | c.80- others(69): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| VSIG1_chrX_108040065_108084184 | 108047903 | TACACATA others(47): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 281 | 0.0036 | -54 | c.49+ others(69): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| VWA3A_chr16_22087541_22161964 | 22115874 | GAAGGAAG others(47): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp1 others(19): Show |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0010c0012t0001a0010c0012t0004 | a0002c0002t0001g0010a0002c0002t0001g0023a0002c0002t0001g0090others(19): Show | 22 | 294 | 0.0748 | -54 | c.815 others(69): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| WDR33_chr2_127696027_127816171 | 127750691 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(16): Show | 19 | 318 | 0.0598 | -54 | c.724 others(73): Show |
WDR33 | ENSG00000136709.12 | transcript | ENST00000322313.9 | protein_coding | 7/21 | chr2 | TogoVar | ||||||
| WDR36_chr5_111087348_111135502 | 111122015 | TGTGTCTT others(47): Show |
T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 420 | 0.0024 | -54 | c.214 others(71): Show |
WDR36 | ENSG00000134987.13 | transcript | ENST00000513710.4 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
| WDR62_chr19_36049897_36110108 | 36094673 | TGAGGCCA others(47): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0304 | 1 | 420 | 0.0024 | -54 | c.246 others(71): Show |
WDR62 | ENSG00000075702.19 | transcript | ENST00000401500.7 | protein_coding | 20/31 | chr19 | TogoVar | ||||||
| WDR93_chr15_89685811_89748638 | 89746347 | ACATCCAC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02647.hp1 others(4): Show |
a0002 | a0002c0006a0002c0015 | a0002c0006t0003a0002c0015t0001 | a0002c0006t0003g0295a0002c0006t0003g0296a0002c0006t0003g0297others(4): Show | 7 | 352 | 0.0199 | -54 | c.*29 others(65): Show |
WDR93 | ENSG00000140527.15 | transcript | ENST00000268130.12 | protein_coding | 2710 | chr15 | TogoVar | ||||||
| WFS1_chr4_6264850_6308265 | 6299883 | TGTGTGTG others(47): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0177 | 1 | 390 | 0.0026 | -54 | c.862 others(69): Show |
WFS1 | ENSG00000109501.15 | transcript | ENST00000226760.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| WIZ_chr19_15414978_15454956 | 15425826 | GGGAGGAG others(47): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0031a0001c0003t0003g0096 | 2 | 208 | 0.0096 | -54 | c.436 others(70): Show |
WIZ | ENSG00000011451.21 | transcript | ENST00000673675.1 | protein_coding | 9/12 | chr19 | TogoVar | ||||||
| WNK2_chr9_93179139_93325569 | 93259430 | CGCTGCCC others(47): Show |
C | disruptive_inframe_deletion | MODERATE | HG03579.hp2 | a0026 | a0026c0045 | a0026c0045t0001 | a0026c0045t0001g0294 | 1 | 316 | 0.0032 | -54 | c.289 others(63): Show |
p.Gln others(13): Show |
WNK2 | ENSG00000165238.17 | transcript | ENST00000427277.7 | protein_coding | 12/30 | 3141/7080 | 2892/6654 | 964/2217 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| WRAP53_chr17_7683477_7708502 | 7699448 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02523.hp1 HG02723.hp1 others(6): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0084a0002c0003t0001g0006a0002c0003t0001g0128others(4): Show | 9 | 384 | 0.0234 | -54 | c.643 others(71): Show |
WRAP53 | ENSG00000141499.18 | transcript | ENST00000396463.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| WRAP53_chr17_7683477_7708502 | 7699468 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 384 | 0.0026 | -54 | c.643 others(71): Show |
WRAP53 | ENSG00000141499.18 | transcript | ENST00000396463.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| WWOX_chr16_78094654_79217667 | 78574999 | TTATATAT others(47): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA21309.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0003 | a0001c0001t0001g0085a0005c0005t0003g0061 | 2 | 142 | 0.0141 | -54 | c.105 others(77): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| WWOX_chr16_78094654_79217667 | 78604791 | CCCCTCCC others(47): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 142 | 0.0070 | -54 | c.105 others(77): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| YJU2_chr19_4242080_4274088 | 4247580 | CGCGTGTG others(47): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359a0001c0001t0001g0360 | 2 | 384 | 0.0052 | -54 | c.24+ others(67): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| YJU2_chr19_4242080_4274088 | 4247582 | CGTGTGTG others(47): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 384 | 0.0026 | -54 | c.24+ others(67): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |