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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HERC6_chr4_88373852_88448097 | 88379954 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
2 | 147 | 0.0136 | 19 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380007 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01346.hp2 NA19064.hp1 |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0001a0002c0005t0001 | a0001c0019t0001g0063 a0002c0005t0001g0064 a0002c0005t0001g0068 |
3 | 122 | 0.0246 | 19 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380060 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 113 | 0.0088 | 19 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380347 | A | AATATAAA others(12): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0014 | 1 | 94 | 0.0106 | 19 | c.199 others(36): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88391996 | T | TTCTCCCT others(12): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0060 | 1 | 172 | 0.0058 | 19 | c.664 others(36): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HES4_chr1_993964_1005097 | 996596 | A | AGGACCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0002c0002t0001g0006 others(3): Show |
188 | 394 | 0.4772 | 19 | c.*24 others(30): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2367 | chr1 | TogoVar | |||||||
HES4_chr1_993964_1005097 | 998757 | C | CGCGGAGG others(12): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 187 | 0.0053 | 19 | c.*30 others(28): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 206 | chr1 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0054 | 1 | 347 | 0.0029 | 19 | c.283 others(34): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0045 | 1 | 347 | 0.0029 | 19 | c.283 others(34): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 197 | 0.0051 | 19 | c.283 others(34): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY2_chr6_125744632_125766269 | 125757275 | G | GACCAAAA others(12): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 398 | 0.0025 | 19 | c.329 others(36): Show |
HEY2 | ENSG00000135547.9 | transcript | ENST00000368364.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 others(15): Show |
18 | 51 | 0.3529 | 19 | c.397 others(38): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264376 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0243 | 1 | 360 | 0.0028 | 19 | c.397 others(38): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HGH1_chr8_144132774_144145851 | 144138200 | A | ATTTATTT others(12): Show |
frameshift_variant | HIGH | NA18971.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0001 | 1 | 340 | 0.0029 | 19 | c.365 others(26): Show |
p.Glu others(5): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 428/2534 | 366/1173 | 122/390 | chr8 | TogoVar | |||
HGSNAT_chr8_43135464_43207855 | 43174997 | A | AACATGTG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(157): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(137): Show |
160 | 232 | 0.6897 | 19 | c.851 others(36): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326117 | G | GTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 62 | 0.0161 | 19 | c.-30 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 2784 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0012others(1): Show | a0001c0001t0002g0125 a0001c0002t0001g0124 a0001c0002t0012g0123 others(1): Show |
4 | 49 | 0.0816 | 19 | c.-44 others(36): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(11): Show |
14 | 48 | 0.2917 | 19 | c.-44 others(36): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01516.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0111 others(10): Show |
13 | 112 | 0.1161 | 19 | c.160 others(36): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210494542 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18955.hp1 NA18982.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0003 | a0001c0001t0001g0204 a0001c0001t0004g0219 a0002c0003t0003g0234 |
3 | 54 | 0.0556 | 19 | c.100 others(40): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210569373 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0162 a0001c0002t0001g0049 |
2 | 73 | 0.0274 | 19 | c.104 others(40): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144645137 | T | TGTGTGTG others(12): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 309 | 0.0032 | 19 | c.-15 others(30): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 1018 | chr4 | TogoVar | |||||||
HHLA1_chr8_132056480_132116157 | 132070011 | C | CGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02273.hp1 |
a0001a0003 | a0001c0005a0003c0002 | a0001c0005t0001a0003c0002t0001 | a0001c0005t0001g0061 a0003c0002t0001g0243 |
2 | 170 | 0.0118 | 19 | c.146 others(38): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
HHLA1_chr8_132056480_132116157 | 132102706 | G | GATGCCCC others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0024a0001c0005t0001 | a0001c0001t0024g0355 a0001c0005t0001g0354 |
2 | 378 | 0.0053 | 19 | c.139 others(36): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0115 others(2): Show |
5 | 63 | 0.0794 | 19 | c.853 others(36): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
HIF3A_chr19_46292042_46348433 | 46293851 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0030 | 1 | 156 | 0.0064 | 19 | c.-32 others(30): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3190 | chr19 | TogoVar | |||||||
HIGD2B_chr15_72670798_72691182 | 72687124 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00738.hp2 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 others(29): Show |
65 | 78 | 0.8333 | 19 | c.-15 others(30): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 943 | chr15 | TogoVar | |||||||
HIGD2B_chr15_72670798_72691182 | 72688411 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(4): Show |
18 | 35 | 0.5143 | 19 | c.-28 others(30): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 2230 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(4): Show |
7 | 74 | 0.0946 | 19 | c.268 others(38): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINT2_chr9_35807960_35820042 | 35814490 | C | CTGACCTC others(12): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 418 | 0.0024 | 19 | c.81+ others(32): Show |
HINT2 | ENSG00000137133.11 | transcript | ENST00000259667.6 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 1 | 46 | 0.0217 | 19 | c.229 others(38): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar | |||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | AAATATAC others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0316 | 1 | 171 | 0.0058 | 19 | c.-2- others(34): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | ATATACAC others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0176 | 1 | 171 | 0.0058 | 19 | c.-2- others(34): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 a0001c0001t0003g0333 a0001c0001t0003g0335 others(8): Show |
11 | 52 | 0.2115 | 19 | c.936 others(36): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12046876 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 | 1 | 336 | 0.0030 | 19 | c.40+ others(36): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12141691 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03516.hp2 HG03688.hp2 |
a0004a0006 | a0004c0004a0006c0009 | a0004c0004t0001a0006c0009t0001 | a0004c0004t0001g0205 a0004c0004t0001g0332 a0006c0009t0001g0199 |
3 | 26 | 0.1154 | 19 | c.648 others(38): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142803597 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 282 | 0.0035 | 19 | c.-52 others(40): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HJURP_chr2_233831702_233859535 | 233854928 | C | CAGGGGGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0159 | 1 | 448 | 0.0022 | 19 | c.-42 others(28): Show |
HJURP | ENSG00000123485.12 | transcript | ENST00000411486.7 | protein_coding | 394 | chr2 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 HG02015.hp1 NA19070.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0002 | a0001c0002t0002g0062 a0001c0003t0001g0151 a0001c0003t0002g0075 |
3 | 73 | 0.0411 | 19 | c.-28 others(30): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0076 a0001c0001t0002g0111 a0001c0001t0002g0116 others(2): Show |
5 | 75 | 0.0667 | 19 | c.-28 others(30): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 71 | 0.0141 | 19 | c.-28 others(30): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69354215 | T | TGTGTCTC others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03486.hp1 |
a0001 | a0001c0005a0001c0013 | a0001c0005t0023a0001c0013t0003 | a0001c0005t0023g0017 a0001c0013t0003g0257 |
2 | 278 | 0.0072 | 19 | c.239 others(36): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HK1_chr10_69313847_69406882 | 69354215 | T | TGTGTCTC others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03486.hp1 |
a0001 | a0001c0005a0001c0014 | a0001c0005t0006a0001c0014t0002 | a0001c0005t0006g0175 a0001c0014t0002g0161 |
2 | 294 | 0.0068 | 19 | c.227 others(36): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000359426.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HKDC1_chr10_69215332_69272552 | 69238368 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 266 | 0.0038 | 19 | c.496 others(34): Show |
HKDC1 | ENSG00000156510.13 | transcript | ENST00000354624.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32656216 | T | TTTATTTC others(12): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0006 | a0006c0005 | a0006c0005t0005 | a0006c0005t0005g0004 | 1 | 400 | 0.0025 | 19 | c.*40 others(30): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 3250 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32663413 | C | CCTTGAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(148): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(9): Show | a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(16): Show |
151 | 340 | 0.4441 | 19 | c.380 others(36): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32435620 | A | ACACACAC others(12): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 84 | 0.0119 | 19 | c.-43 others(30): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4266 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731227 | G | GGATGGAT others(12): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG03669.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 2 | 174 | 0.0115 | 19 | c.*40 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 3932 | chr6 | TogoVar | |||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 1 | 25 | 0.0400 | 19 | c.*71 others(28): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186110977 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(12): Show |
a0001a0006a0007others(5): Show | a0001c0001a0001c0015a0006c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0087 others(12): Show |
15 | 27 | 0.5556 | 19 | c.109 others(40): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |