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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECW1_chr7_43107647_43571001 | 43344468 | AAGGTAAG others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0008 | a0003c0008t0010 | a0003c0008t0010g0003 | 1 | 182 | 0.0055 | -15 | c.461 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | chr7 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43455116 | CTTTTTGT others(8): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 182 | 0.0055 | -15 | c.250 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43566615 | TTTATTAT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0013others(3): Show | a0001c0001t0001a0001c0007t0006a0001c0007t0011others(4): Show | a0001c0001t0001g0161 a0001c0007t0006g0138 a0001c0007t0006g0139 others(9): Show |
12 | 182 | 0.0659 | -15 | c.*46 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 615 | chr7 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196402200 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp1 HG01496.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0084 others(14): Show |
17 | 112 | 0.1518 | -15 | c.292 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196460776 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03540.hp1 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0011a0001c0016t0029 | a0001c0006t0011g0098 a0001c0016t0029g0099 |
2 | 112 | 0.0179 | -15 | c.-35 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94571326 | GAATAAAT others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 358 | 0.0028 | -15 | c.436 others(28): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 6/21 | chr10 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023063 | CTCTCTCT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 454 | 0.0022 | -15 | c.*22 others(26): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2111 | chr4 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023064 | TCTCTCTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02027.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(1): Show |
38 | 454 | 0.0837 | -15 | c.*22 others(26): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2112 | chr4 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 314 | 0.0032 | -15 | c.*43 others(26): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEPH_chrX_66159247_66272389 | 66206339 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0027 others(5): Show |
8 | 218 | 0.0367 | -15 | c.229 others(32): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737501 | TATATCTT others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp1 others(8): Show |
a0001a0002a0005 | a0001c0010a0002c0003a0002c0012others(1): Show | a0001c0010t0001a0002c0003t0002a0002c0012t0001others(1): Show | a0001c0010t0001g0082 a0001c0010t0001g0086 a0001c0010t0001g0087 others(7): Show |
11 | 216 | 0.0509 | -15 | c.252 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63743249 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0001 | 2 | 216 | 0.0093 | -15 | c.252 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826801 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0004a0001c0015 | a0001c0004t0001a0001c0015t0001 | a0001c0004t0001g0197 a0001c0015t0001g0195 a0001c0015t0001g0196 |
3 | 216 | 0.0139 | -15 | c.-27 others(32): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28206832 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp1 others(50): Show |
a0002a0012a0020others(10): Show | a0002c0002a0002c0054a0002c0059others(14): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(14): Show | a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(50): Show |
53 | 250 | 0.2120 | -15 | c.707 others(32): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 44/92 | chr15 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88699095 | CTCCTCAC others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 296 | 0.0034 | -15 | c.265 others(34): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927411 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0321 a0001c0002t0005g0329 |
2 | 360 | 0.0056 | -15 | c.283 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927416 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18944.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0123 |
2 | 360 | 0.0056 | -15 | c.283 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927418 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 360 | 0.0028 | -15 | c.283 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059459 | AATAATAT others(8): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 360 | 0.0028 | -15 | c.226 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059588 | CATATTAT others(8): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 360 | 0.0028 | -15 | c.226 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059855 | CATAATAT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(50): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 others(50): Show |
53 | 360 | 0.1472 | -15 | c.226 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059873 | AATAATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0327 | 1 | 360 | 0.0028 | -15 | c.226 others(34): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35674449 | AGAGAGAG others(8): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0289 | 1 | 392 | 0.0026 | -15 | c.148 others(32): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HEXB_chr5_74680233_74726288 | 74716027 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02486.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0104 others(1): Show |
5 | 396 | 0.0126 | -15 | c.108 others(32): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433092 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03098.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0019 a0002c0005t0001g0019 |
2 | 400 | 0.0050 | -15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433113 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG02647.hp2 HG02896.hp1 others(8): Show |
a0002a0009 | a0002c0002a0002c0005a0009c0017 | a0002c0002t0001a0002c0005t0001a0009c0017t0001 | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0182 others(2): Show |
11 | 400 | 0.0275 | -15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433114 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 400 | 0.0025 | -15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433116 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 400 | 0.0025 | -15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 400 | 0.0025 | -15 | c.283 others(30): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0091 a0001c0005t0002g0143 a0001c0005t0002g0144 others(6): Show |
9 | 362 | 0.0249 | -15 | c.397 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91407303 | CTATGTAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 362 | 0.0028 | -15 | c.-25 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 2467 | chr1 | TogoVar | |||||||
HGFAC_chr4_3436968_3454486 | 3451352 | TTCCCGTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0048 | 1 | 454 | 0.0022 | -15 | c.*19 others(26): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 1867 | chr4 | TogoVar | |||||||
HGS_chr17_81679011_81707121 | 81696163 | ATGCCCTG others(8): Show |
A | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 414 | 0.0024 | -15 | c.139 others(32): Show |
HGS | ENSG00000185359.14 | transcript | ENST00000329138.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 a0001c0001t0003g0159 |
2 | 268 | 0.0075 | -15 | c.160 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210428331 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 268 | 0.0037 | -15 | c.856 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210441091 | GCTGCCAC others(8): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0079 a0001c0001t0010g0009 |
2 | 268 | 0.0075 | -15 | c.856 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210629830 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 268 | 0.0037 | -15 | c.139 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646787 | AATATAAT others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0032a0002c0001t0001others(1): Show | a0001c0002t0002g0163 a0001c0002t0032g0162 a0002c0001t0001g0161 others(4): Show |
7 | 374 | 0.0187 | -15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646792 | AATATGAT others(8): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp2 others(22): Show |
a0001a0002a0014 | a0001c0002a0002c0001a0014c0018 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(5): Show | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0045 others(22): Show |
25 | 374 | 0.0668 | -15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646822 | GATATGAT others(8): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0252 | 1 | 374 | 0.0027 | -15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646827 | GATATGAT others(8): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01074.hp2 others(26): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0025others(4): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0081 others(23): Show |
29 | 374 | 0.0775 | -15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646832 | GATATAAT others(8): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0002c0001t0001 | a0001c0002t0004g0080 a0002c0001t0001g0003 a0002c0001t0001g0078 others(1): Show |
5 | 374 | 0.0134 | -15 | c.255 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656861 | AAGGAAGG others(8): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0222 | 1 | 374 | 0.0027 | -15 | c.903 others(30): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp1 NA18956.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0001 | a0001c0003t0001g0313 a0002c0005t0001g0221 |
2 | 418 | 0.0048 | -15 | c.-41 others(26): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 others(35): Show |
41 | 316 | 0.1298 | -15 | c.832 others(34): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144716854 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG01943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0264 a0001c0001t0002g0236 a0001c0001t0002g0237 others(6): Show |
9 | 316 | 0.0285 | -15 | c.167 others(34): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144742899 | CTTTTTAT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0027 | 1 | 316 | 0.0032 | -15 | c.*49 others(26): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 4944 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHLA1_chr8_132056480_132116157 | 132070722 | TCATCTCA others(8): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 380 | 0.0026 | -15 | c.146 others(32): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
HHLA2_chr3_108291548_108383285 | 108368535 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0004 | a0004c0006 | a0004c0006t0012 | a0004c0006t0012g0153 | 1 | 322 | 0.0031 | -15 | c.110 others(34): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27542438 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 326 | 0.0031 | -15 | c.618 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 5/7 | chr7 | TogoVar |