| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HDX_chrX_84312878_84507453 | 84417218 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01070.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0065a0001c0001t0001g0082others(24): Show | 27 | 269 | 0.1004 | 8 | c.130 others(29): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
| HDX_chrX_84312878_84507453 | 84471244 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0020others(36): Show | 39 | 269 | 0.1450 | 8 | c.148 others(25): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 3/10 | chrX | TogoVar | ||||||
| HEATR1_chr1_236544005_236609516 | 236586073 | A | AATTTGTC others(1): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02055.hp2 HG02895.hp1 |
a0023a0042 | a0023c0018a0042c0033 | a0023c0018t0006a0042c0033t0006 | a0023c0018t0006g0047a0023c0018t0006g0048a0042c0033t0006g0179 | 3 | 388 | 0.0077 | 8 | c.192 others(25): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 15/44 | chr1 | TogoVar | ||||||
| HEATR3_chr16_50060970_50112272 | 50077877 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(167): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0003g0031a0001c0001t0003g0068a0001c0001t0003g0074others(136): Show | 170 | 314 | 0.5414 | 8 | c.764 others(23): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HEATR3_chr16_50060970_50112272 | 50092436 | C | CTTTTTTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(136): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0008a0001c0010others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(17): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0004others(106): Show | 139 | 314 | 0.4427 | 8 | c.151 others(27): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HEATR3_chr16_50060970_50112272 | 50092436 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0173a0001c0001t0001g0180a0001c0001t0002g0203others(9): Show | 12 | 314 | 0.0382 | 8 | c.151 others(27): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp1 HG02148.hp2 others(5): Show |
a0001a0010a0013 | a0001c0001a0010c0016a0013c0033 | a0001c0001t0001a0001c0001t0003a0010c0016t0004others(1): Show | a0001c0001t0001g0060a0001c0001t0003g0223a0001c0001t0003g0224others(5): Show | 8 | 368 | 0.0217 | 8 | c.188 others(25): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31297483 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02074.hp1 HG02109.hp1 others(10): Show |
a0007a0010a0011others(3): Show | a0007c0006a0010c0010a0011c0013others(3): Show | a0007c0006t0006a0010c0010t0010a0010c0010t0014others(4): Show | a0007c0006t0006g0024a0007c0006t0006g0025a0010c0010t0010g0058others(10): Show | 13 | 354 | 0.0367 | 8 | c.546 others(27): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 33/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31325484 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 NA18995.hp1 |
a0003a0011 | a0003c0003a0011c0013 | a0003c0003t0001a0011c0013t0012 | a0003c0003t0001g0209a0003c0003t0001g0253a0011c0013t0012g0335 | 3 | 354 | 0.0085 | 8 | c.354 others(25): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 23/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31336213 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03471.hp1 NA19004.hp2 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0003 | a0001c0001t0001g0284a0009c0008t0003g0127a0009c0008t0003g0144 | 3 | 354 | 0.0085 | 8 | c.336 others(27): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 22/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31344268 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01257.hp2 others(16): Show |
a0001a0002a0028 | a0001c0001a0002c0002a0028c0026 | a0001c0001t0001a0002c0002t0001a0028c0026t0001 | a0001c0001t0001g0122a0002c0002t0001g0061a0002c0002t0001g0062others(16): Show | 19 | 354 | 0.0537 | 8 | c.305 others(25): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 20/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31359287 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01928.hp2 others(14): Show |
a0004a0011a0026 | a0004c0004a0011c0024a0026c0027 | a0004c0004t0001a0011c0024t0001a0026c0027t0001 | a0004c0004t0001g0090a0004c0004t0001g0091a0004c0004t0001g0092others(14): Show | 17 | 354 | 0.0480 | 8 | c.207 others(25): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 14/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31361941 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 NA19062.hp2 |
a0002a0004a0007 | a0002c0002a0004c0004a0007c0006 | a0002c0002t0001a0004c0004t0024a0007c0006t0006 | a0002c0002t0001g0324a0004c0004t0024g0027a0007c0006t0006g0025 | 3 | 354 | 0.0085 | 8 | c.207 others(27): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 14/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31409054 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01106.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0053a0001c0001t0001g0054others(31): Show | 34 | 354 | 0.0961 | 8 | c.-74 others(25): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31422100 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(58): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0015a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0015t0001others(10): Show | a0001c0001t0001g0269a0001c0001t0001g0278a0001c0001t0001g0286others(58): Show | 61 | 354 | 0.1723 | 8 | c.-17 others(19): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1551 | chr14 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 36982863 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(40): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0082others(40): Show | 43 | 314 | 0.1369 | 8 | c.591 others(27): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 37029936 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00738.hp2 others(67): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(13): Show | a0001c0001t0001g0048a0001c0001t0001g0100a0001c0001t0001g0130others(67): Show | 70 | 314 | 0.2229 | 8 | c.336 others(27): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 22/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 37059446 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02027.hp2 NA19002.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0133a0001c0002t0001g0212a0001c0002t0001g0250others(2): Show | 5 | 314 | 0.0159 | 8 | c.185 others(25): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 12/35 | chr2 | TogoVar | ||||||
| HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0002t0001g0056others(9): Show | 12 | 314 | 0.0382 | 8 | c.126 others(25): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60040814 | T | TTTTGTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0014a0005c0005 | a0001c0001t0014a0001c0001t0018a0001c0001t0086others(2): Show | a0001c0001t0014g0190a0001c0001t0014g0191a0001c0001t0014g0192others(11): Show | 15 | 250 | 0.0600 | 8 | c.*27 others(19): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 193 | chr17 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60048983 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01192.hp2 HG01516.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0006t0012others(2): Show | a0001c0001t0003g0081a0001c0001t0005g0087a0001c0006t0012g0004others(3): Show | 7 | 250 | 0.0280 | 8 | c.254 others(25): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60049122 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01070.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0021a0001c0001t0087a0002c0002t0007others(11): Show | a0001c0001t0021g0112a0001c0001t0021g0113a0001c0001t0087g0076others(21): Show | 31 | 250 | 0.1240 | 8 | c.254 others(25): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60064305 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016 | a0001c0001t0014g0194a0001c0001t0016g0051a0001c0001t0016g0168 | 3 | 250 | 0.0120 | 8 | c.141 others(27): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 9/19 | chr17 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60064330 | C | CAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0086 | a0001c0001t0014g0191a0001c0001t0014g0192a0001c0001t0014g0195others(1): Show | 4 | 250 | 0.0160 | 8 | c.141 others(27): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 9/19 | chr17 | TogoVar | ||||||
| HEBP1_chr12_12969870_13005265 | 12987590 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0146a0001c0001t0001g0218a0001c0001t0001g0219others(1): Show | 4 | 396 | 0.0101 | 8 | c.218 others(23): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
| HEBP1_chr12_12969870_13005265 | 13000192 | C | CGGCGGCA others(1): Show |
5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0010a0001c0003t0006 | a0001c0001t0006g0116a0001c0001t0006g0117a0001c0001t0006g0122others(5): Show | 8 | 396 | 0.0202 | 8 | c.-86 others(15): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 1/4 | 79 | chr12 | TogoVar | |||||
| HEBP1_chr12_12969870_13005265 | 13000454 | G | GGCAGCAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0012 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0038others(4): Show | 11 | 396 | 0.0278 | 8 | c.-34 others(17): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 190 | chr12 | TogoVar | ||||||
| HEBP2_chr6_138399223_138427197 | 138402893 | A | ATTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0044a0001c0001t0003g0001a0001c0001t0006g0001 | 3 | 316 | 0.0095 | 8 | c.-16 others(19): Show |
HEBP2 | ENSG00000051620.11 | transcript | ENST00000607197.6 | protein_coding | 1329 | chr6 | TogoVar | ||||||
| HECA_chr6_139130080_139185802 | 139152418 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(48): Show | 76 | 314 | 0.2420 | 8 | c.272 others(27): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| HECA_chr6_139130080_139185802 | 139164080 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0020a0001c0003t0022 | a0001c0003t0020g0036a0001c0003t0022g0037 | 4 | 314 | 0.0127 | 8 | c.272 others(25): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| HECTD1_chr14_31095117_31212793 | 31096676 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(43): Show |
a0001a0002a0008 | a0001c0004a0001c0007a0001c0025others(3): Show | a0001c0004t0001a0001c0007t0001a0001c0025t0001others(3): Show | a0001c0004t0001g0025a0001c0004t0001g0027a0001c0004t0001g0033others(43): Show | 46 | 342 | 0.1345 | 8 | c.*42 others(19): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 3440 | chr14 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31122263 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01168.hp2 others(17): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0010others(3): Show | a0001c0004t0001a0001c0007t0001a0001c0010t0004others(3): Show | a0001c0004t0001g0077a0001c0007t0001g0028a0001c0010t0004g0016others(17): Show | 20 | 342 | 0.0585 | 8 | c.511 others(25): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 27/42 | chr14 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31134518 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01123.hp2 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0003others(2): Show | a0001c0001t0001g0183a0001c0001t0001g0186a0001c0004t0001g0339others(3): Show | 6 | 342 | 0.0175 | 8 | c.357 others(25): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31156516 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(26): Show |
a0001a0008 | a0001c0002a0001c0004a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0014others(6): Show | a0001c0002t0001g0050a0001c0002t0001g0306a0001c0002t0001g0309others(26): Show | 29 | 342 | 0.0848 | 8 | c.193 others(25): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 12/42 | chr14 | TogoVar | ||||||
| HECTD1_chr14_31095117_31212793 | 31163087 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(43): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0097others(328): Show | 331 | 342 | 0.9678 | 8 | c.162 others(27): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 10/42 | chr14 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112161257 | T | TGCACTGG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(218): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0099others(218): Show | 221 | 270 | 0.8185 | 8 | c.*11 others(19): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 76/76 | 1129 | chr12 | TogoVar | |||||
| HECTD4_chr12_112155195_112387431 | 112200884 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01256.hp1 HG01258.hp2 others(9): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0178a0001c0002t0001g0179a0001c0002t0001g0184others(9): Show | 12 | 270 | 0.0444 | 8 | c.840 others(23): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 54/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112207116 | G | GTGTATGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03579.hp2 NA18959.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0027a0001c0001t0003g0038a0001c0001t0003g0051others(2): Show | 5 | 270 | 0.0185 | 8 | c.813 others(25): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 52/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112207116 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01496.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0018a0002c0005 | a0001c0002t0001a0001c0002t0008a0001c0018t0001others(1): Show | a0001c0002t0001g0163a0001c0002t0001g0164a0001c0002t0001g0176others(10): Show | 13 | 270 | 0.0482 | 8 | c.813 others(25): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 52/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112226192 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 NA18946.hp1 others(18): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0225a0001c0002t0001g0227a0001c0002t0001g0228others(18): Show | 21 | 270 | 0.0778 | 8 | c.697 others(25): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 44/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112247977 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18959.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164a0001c0002t0001g0177a0001c0002t0001g0208others(1): Show | 4 | 270 | 0.0148 | 8 | c.424 others(23): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 27/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112263705 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0016others(3): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0020others(5): Show | a0001c0002t0001g0161a0001c0002t0001g0164a0001c0002t0001g0166others(37): Show | 40 | 270 | 0.1482 | 8 | c.274 others(25): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 17/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112293543 | A | AAATCAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(139): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(26): Show | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0099others(139): Show | 142 | 270 | 0.5259 | 8 | c.133 others(29): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112328110 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(12): Show | a0001c0001t0001g0216a0001c0001t0011g0265a0001c0002t0001g0164others(67): Show | 70 | 270 | 0.2593 | 8 | c.178 others(25): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112335143 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01943.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0013a0001c0030others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0010a0001c0001t0003g0011a0001c0001t0003g0012others(21): Show | 24 | 270 | 0.0889 | 8 | c.178 others(27): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43108111 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG03491.hp1 HG03491.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0004a0001c0004t0002others(2): Show | a0001c0001t0002g0045a0001c0002t0004g0015a0001c0002t0004g0040others(3): Show | 6 | 182 | 0.0330 | 8 | c.-50 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4535 | chr7 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43125757 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(14): Show | a0001c0001t0002g0031a0001c0001t0002g0034a0001c0001t0002g0036others(21): Show | 24 | 182 | 0.1319 | 8 | c.-32 others(27): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECW1_chr7_43107647_43571001 | 43137527 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0002g0031a0001c0001t0002g0036a0001c0001t0002g0088others(25): Show | 28 | 182 | 0.1539 | 8 | c.-32 others(27): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43137528 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG02015.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0114a0001c0001t0003g0178a0001c0001t0005g0060others(8): Show | 11 | 182 | 0.0604 | 8 | c.-32 others(27): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECW1_chr7_43107647_43571001 | 43159105 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02976.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0015 | a0001c0001t0005a0001c0002t0001a0004c0015t0001 | a0001c0001t0005g0060a0001c0002t0001g0080a0004c0015t0001g0176 | 3 | 182 | 0.0165 | 8 | c.-32 others(27): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |