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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDC_chr15_50236947_50270726 | 50240886 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 7 | 418 | 0.0168 | -16 | c.*13 others(27): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | ||||||
HDGFL1_chr6_22564566_22576666 | 22576522 | GATATATA others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG01517.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0007a0001c0010t0001 | a0001c0001t0001g0000a0001c0003t0007g0000a0001c0010t0001g0000 | 14 | 432 | 0.0324 | -16 | c.*61 others(27): Show |
HDGFL1 | ENSG00000112273.7 | transcript | ENST00000510882.4 | protein_coding | 4857 | chr6 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4491249 | ACCCACCC others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(29): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(5): Show | a0001c0001t0001g0087a0001c0001t0001g0225a0001c0001t0001g0226others(28): Show | 32 | 358 | 0.0894 | -16 | c.490 others(31): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HDGFL3_chr15_83122753_83212823 | 83145897 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(3): Show | a0001c0001t0004g0221a0001c0001t0008g0014a0001c0001t0008g0015others(9): Show | 12 | 246 | 0.0488 | -16 | c.606 others(33): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241299505 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0015a0001c0003t0008a0002c0002t0001 | a0001c0001t0015g0189a0001c0001t0015g0190a0001c0001t0015g0191others(3): Show | 6 | 354 | 0.0170 | -16 | c.-10 others(37): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84354930 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03688.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0255a0001c0001t0002g0109a0001c0001t0002g0122others(1): Show | 4 | 269 | 0.0149 | -16 | c.145 others(35): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 6/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84497235 | TAGTACAA others(9): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0004 | a0004c0008a0004c0009 | a0004c0008t0001a0004c0009t0010 | a0004c0008t0001g0245a0004c0009t0010g0244 | 2 | 269 | 0.0074 | -16 | c.-11 others(35): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 1/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84498821 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG03471.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0007a0003c0003t0001g0006 | 2 | 269 | 0.0074 | -16 | c.-11 others(35): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 1/10 | chrX | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236544604 | CACCTGCA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0026 | 1 | 388 | 0.0026 | -16 | c.*62 others(27): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 4400 | chr1 | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236571764 | AGAACTCA others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01106.hp2 others(59): Show |
a0003a0009a0010others(10): Show | a0003c0003a0003c0048a0009c0011others(11): Show | a0003c0003t0004a0003c0003t0016a0003c0048t0004others(12): Show | a0003c0003t0004g0001a0003c0003t0004g0025a0003c0003t0004g0026others(47): Show | 62 | 388 | 0.1598 | -16 | c.370 others(31): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 26/44 | chr1 | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236609447 | ATGAAAGC others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 388 | 0.0026 | -16 | c.-50 others(27): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 4932 | chr1 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73477049 | CATATATA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01168.hp2 HG01981.hp2 others(11): Show |
a0001a0011a0017 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0100a0001c0001t0004g0349a0001c0002t0002g0204others(11): Show | 14 | 368 | 0.0380 | -16 | c.*15 others(27): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1434 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73509810 | CCATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01891.hp1 others(13): Show |
a0001a0019a0020 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0003g0220others(12): Show | 16 | 368 | 0.0435 | -16 | c.155 others(33): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73509858 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 368 | 0.0027 | -16 | c.155 others(33): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73511520 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01109.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0002g0346others(5): Show | 8 | 368 | 0.0217 | -16 | c.155 others(33): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73535469 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0005a0007c0015t0001 | a0001c0001t0005g0020a0001c0001t0005g0021a0001c0001t0005g0022others(6): Show | 9 | 368 | 0.0245 | -16 | c.-15 others(35): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31311018 | AAACCAAC others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(85): Show |
a0001a0002a0017others(2): Show | a0001c0001a0002c0002a0002c0021others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0013others(7): Show | a0001c0001t0001g0260a0001c0001t0001g0261a0001c0001t0001g0262others(85): Show | 88 | 354 | 0.2486 | -16 | c.444 others(35): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 28/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31336209 | CATACATA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0036others(7): Show | 10 | 354 | 0.0283 | -16 | c.336 others(35): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 22/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31336213 | CATACATA others(9): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG03831.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0087a0002c0002t0001g0159a0002c0002t0013g0191 | 3 | 354 | 0.0085 | -16 | c.336 others(35): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 22/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31359279 | AGTGTAAG others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(12): Show |
a0005a0013 | a0005c0005a0013c0017 | a0005c0005t0002a0013c0017t0001 | a0005c0005t0002g0060a0005c0005t0002g0072a0005c0005t0002g0073others(12): Show | 15 | 354 | 0.0424 | -16 | c.207 others(33): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 14/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31368695 | CTATTTAT others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(10): Show |
a0008a0009a0022 | a0008c0009a0009c0008a0022c0020 | a0008c0009t0003a0009c0008t0003a0022c0020t0004 | a0008c0009t0003g0116a0008c0009t0003g0117a0008c0009t0003g0118others(10): Show | 13 | 354 | 0.0367 | -16 | c.196 others(35): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 13/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31422100 | ATGTGTGT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0007 | a0007c0006 | a0007c0006t0006 | a0007c0006t0006g0339 | 1 | 354 | 0.0028 | -16 | c.-17 others(27): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1551 | chr14 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 36978086 | AAAAAAAA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01255.hp2 HG01358.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0176a0001c0002t0001g0056a0001c0002t0001g0060others(3): Show | 6 | 314 | 0.0191 | -16 | c.*33 others(27): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2808 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37016782 | GTATTTAT others(9): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 314 | 0.0032 | -16 | c.410 others(35): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 26/35 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37029936 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02615.hp1 others(8): Show |
a0001a0006 | a0001c0008a0001c0027a0006c0016 | a0001c0008t0001a0001c0008t0003a0001c0027t0001others(1): Show | a0001c0008t0001g0131a0001c0008t0001g0191a0001c0008t0001g0279others(8): Show | 11 | 314 | 0.0350 | -16 | c.336 others(35): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 22/35 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37059406 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02004.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0017 | a0001c0002t0001a0001c0005t0001a0002c0017t0001 | a0001c0002t0001g0022a0001c0005t0001g0016a0001c0005t0001g0023others(8): Show | 11 | 314 | 0.0350 | -16 | c.185 others(33): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 12/35 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37059432 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG01952.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0009 | a0001c0005t0001g0017a0001c0005t0001g0019a0001c0005t0001g0020others(3): Show | 6 | 314 | 0.0191 | -16 | c.185 others(33): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 12/35 | chr2 | TogoVar | ||||||
HEATR9_chr17_35849955_35873891 | 35865823 | ACAGACTA others(9): Show |
A | intron_variant | MODIFIER | NA18959.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 379 | 0.0053 | -16 | c.139 others(31): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
HEBP1_chr12_12969870_13005265 | 12993154 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0071others(6): Show | 10 | 396 | 0.0253 | -16 | c.79- others(31): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
HEBP1_chr12_12969870_13005265 | 13000192 | CGGCGGCA others(9): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02040.hp2 HG02056.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0026a0001c0001t0003g0058others(18): Show | 30 | 396 | 0.0758 | -16 | c.-94 others(23): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 1/4 | 79 | chr12 | TogoVar | |||||
HEBP1_chr12_12969870_13005265 | 13000239 | AGGGCGGC others(9): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0254 | 1 | 396 | 0.0025 | -16 | c.-14 others(25): Show |
HEBP1 | ENSG00000013583.10 | transcript | ENST00000014930.9 | protein_coding | 1/4 | 126 | chr12 | TogoVar | |||||
HEBP2_chr6_138399223_138427197 | 138402931 | TATTTATT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0072 | a0001c0003t0072g0030 | 1 | 316 | 0.0032 | -16 | c.-15 others(27): Show |
HEBP2 | ENSG00000051620.11 | transcript | ENST00000607197.6 | protein_coding | 1291 | chr6 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31134518 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | NA18956.hp2 NA18994.hp1 NA19002.hp2 others(1): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0288a0001c0008t0001g0264a0001c0008t0001g0284others(1): Show | 4 | 342 | 0.0117 | -16 | c.357 others(33): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31134553 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01993.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0141a0001c0001t0001g0142 | 3 | 342 | 0.0088 | -16 | c.357 others(33): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31188089 | GTAGATAG others(9): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG02015.hp1 others(3): Show |
a0001 | a0001c0003a0001c0008a0001c0030 | a0001c0003t0001a0001c0008t0001a0001c0030t0001 | a0001c0003t0001g0236a0001c0003t0001g0240a0001c0003t0001g0248others(3): Show | 6 | 342 | 0.0175 | -16 | c.141 others(33): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 2/42 | chr14 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112217302 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp1 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0005 | a0001c0001t0005g0053a0001c0001t0005g0054a0001c0001t0005g0055others(2): Show | 5 | 270 | 0.0185 | -16 | c.707 others(33): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 45/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112296200 | TGTAGGTG others(9): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0016others(6): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0020others(8): Show | a0001c0002t0001g0161a0001c0002t0001g0163a0001c0002t0001g0164others(78): Show | 81 | 270 | 0.3000 | -16 | c.133 others(35): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 7/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323953 | TCTTTCTT others(9): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0140 | 1 | 270 | 0.0037 | -16 | c.178 others(33): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323957 | TCTTTCTT others(9): Show |
T | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0252a0001c0001t0008g0253 | 2 | 270 | 0.0074 | -16 | c.178 others(33): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112328110 | CTATTTAT others(9): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0030a0002c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0004g0023a0001c0001t0007g0007a0001c0001t0007g0024others(5): Show | 8 | 270 | 0.0296 | -16 | c.178 others(33): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112367306 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0003t0002 | a0001c0001t0004g0074a0001c0001t0004g0075a0001c0001t0004g0076others(4): Show | 7 | 270 | 0.0259 | -16 | c.177 others(35): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43221537 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0055 | 1 | 182 | 0.0055 | -16 | c.-31 others(35): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43237140 | AGTAGGTA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(4): Show | a0001c0001t0001g0078a0001c0001t0003g0178a0001c0001t0018g0074others(5): Show | 8 | 182 | 0.0440 | -16 | c.-31 others(33): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43304459 | GTTATTTA others(9): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0012 | a0001c0002t0009a0001c0006t0001a0001c0006t0019others(1): Show | a0001c0002t0009g0123a0001c0006t0001g0171a0001c0006t0019g0073others(2): Show | 5 | 182 | 0.0275 | -16 | c.28- others(31): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43336124 | TTCTCTCT others(9): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 182 | 0.0055 | -16 | c.460 others(35): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43336144 | TTCTCTCT others(9): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 182 | 0.0055 | -16 | c.460 others(35): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43341307 | TATAAATA others(9): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0072others(73): Show | 76 | 182 | 0.4176 | -16 | c.461 others(35): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43429289 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(12): Show | a0001c0001t0002g0088a0001c0001t0003g0087a0001c0001t0015g0012others(22): Show | 25 | 182 | 0.1374 | -16 | c.802 others(33): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43466148 | AGAAAGAA others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0005a0001c0021t0029 | a0001c0001t0005g0163a0001c0021t0029g0093 | 2 | 182 | 0.0110 | -16 | c.279 others(33): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43488324 | GAGGAAGG others(9): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0064a0001c0001t0002g0031a0001c0001t0002g0088others(27): Show | 30 | 182 | 0.1648 | -16 | c.323 others(35): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |