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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCN2_chr19_584881_622159 | 602360 | TCTCCTGC others(26): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0099 | a0001c0099t0004 | a0001c0099t0004g0377 | 1 | 212 | 0.0047 | -33 | c.633 others(50): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602382 | CCCTCCTC others(26): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 |
a0001 | a0001c0020a0001c0034 | a0001c0020t0004a0001c0034t0004 | a0001c0020t0004g0030 a0001c0034t0004g0043 |
2 | 372 | 0.0054 | -33 | c.633 others(50): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50245357 | AATGTTTA others(26): Show |
A | intron_variant | MODIFIER | NA18957.hp2 NA18982.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 3 | 416 | 0.0072 | -33 | c.114 others(52): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
HEPACAM_chr11_124914205_124941047 | 124924648 | CAGTCTAG others(26): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG03927.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0091 a0002c0003t0003g0096 |
2 | 418 | 0.0048 | -33 | c.427 others(46): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
HEPN1_chr11_124914250_124925677 | 124924648 | CAGTCTAG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 HG03927.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 426 | 0.0047 | -33 | c.*46 others(44): Show |
HEPN1 | ENSG00000221932.7 | transcript | ENST00000408930.7 | protein_coding | 3972 | chr11 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28316240 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0008 | 1 | 248 | 0.0040 | -33 | c.72+ others(48): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88698891 | CCACCCTC others(26): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0004a0001c0004t0004a0001c0004t0017others(2): Show | a0001c0001t0004g0025 a0001c0004t0004g0189 a0001c0004t0017g0187 others(3): Show |
6 | 294 | 0.0204 | -33 | c.265 others(52): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88699285 | TTCCCCAC others(26): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02523.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0224 a0001c0001t0001g0252 |
3 | 214 | 0.0140 | -33 | c.265 others(52): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433110 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01081.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0249 others(10): Show |
20 | 398 | 0.0503 | -33 | c.283 others(48): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79768291 | ACGGCGAC others(26): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 454 | 0.0022 | -33 | c.-66 others(42): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 525 | chr8 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27613124 | TTATATAT others(26): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02135.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0002t0001g0319 |
3 | 315 | 0.0095 | -33 | c.484 others(52): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIPK4_chr19_40374271_40395181 | 40386940 | CACCTTCC others(26): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 380 | 0.0026 | -33 | c.465 others(50): Show |
HIPK4 | ENSG00000160396.9 | transcript | ENST00000291823.3 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167929 | GTATATTA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03225.hp2 NA18980.hp1 others(3): Show |
a0002a0006a0038 | a0002c0011a0006c0009a0038c0049 | a0002c0011t0001a0006c0009t0001a0038c0049t0001 | a0002c0011t0001g0139 a0002c0011t0001g0140 a0002c0011t0001g0236 others(3): Show |
6 | 341 | 0.0176 | -33 | c.*34 others(44): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2931 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544831 | TCACCACC others(26): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 123 | 0.0081 | -33 | c.520 others(54): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41545383 | CCACCACC others(26): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 134 | 0.0075 | -33 | c.520 others(54): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HJURP_chr2_233831702_233859535 | 233856432 | GAAGATGT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0159 | 1 | 448 | 0.0022 | -33 | c.-19 others(44): Show |
HJURP | ENSG00000123485.12 | transcript | ENST00000411486.7 | protein_coding | 1898 | chr2 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(26): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0057 a0010c0011t0004g0058 |
2 | 6 | 0.3333 | -33 | c.340 others(50): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130310583 | GAGGGGCT others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(56): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(46): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(46): Show | a0001c0001t0001g0020 a0001c0001t0001g0104 a0001c0001t0001g0105 others(56): Show |
59 | 256 | 0.2305 | -33 | c.235 others(50): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | chr9 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130310599 | ATGTGAAC others(26): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0045 | a0045c0193 | a0045c0193t0002 | a0045c0193t0002g0234 | 1 | 256 | 0.0039 | -33 | c.235 others(50): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGB3_chrX_150978335_150995771 | 150983398 | CCCGCCGC others(26): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0003g0001 others(2): Show |
9 | 16 | 0.5625 | -33 | c.-6+ others(44): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HMGXB4_chr22_35252493_35300807 | 35294425 | TGTCTTTC others(26): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0080 | 1 | 340 | 0.0029 | -33 | c.*77 others(42): Show |
HMGXB4 | ENSG00000100281.14 | transcript | ENST00000216106.6 | protein_coding | 11/11 | 778 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HNRNPH1_chr5_179609178_179628671 | 179621909 | TTGCCCCC others(26): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 428 | 0.0023 | -33 | c.98- others(46): Show |
HNRNPH1 | ENSG00000169045.19 | transcript | ENST00000393432.9 | protein_coding | 2/13 | chr5 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30175237 | TTATATAT others(26): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0072 |
3 | 150 | 0.0200 | -33 | c.820 others(48): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HPGDS_chr4_94293535_94347836 | 94340301 | CTTTCTTT others(26): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 296 | 0.0034 | -33 | c.-10 others(50): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HROB_chr17_44136930_44167476 | 44164280 | GTTAGCCA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 320 | 0.0031 | -33 | c.*23 others(44): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 1805 | chr17 | TogoVar | |||||||
HS1BP3_chr2_20612818_20656098 | 20622066 | CACAGCCA others(26): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007a0001c0003t0021 | a0001c0003t0003g0061 a0001c0003t0007g0011 a0001c0003t0007g0019 others(5): Show |
11 | 402 | 0.0274 | -33 | c.920 others(50): Show |
HS1BP3 | ENSG00000118960.13 | transcript | ENST00000304031.8 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
HSCB_chr22_28737039_28762510 | 28756450 | AAACACAA others(26): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 408 | 0.0025 | -33 | c.617 others(48): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HSD17B8_chr6_33199655_33211831 | 33211097 | AGTTTAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | -33 | c.*44 others(44): Show |
HSD17B8 | ENSG00000204228.4 | transcript | ENST00000374662.4 | protein_coding | 4267 | chr6 | TogoVar | |||||||
HTRA1_chr10_122456553_122519907 | 122472369 | CTATTATT others(26): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 76 | 0.0132 | -33 | c.472 others(52): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3227453 | CCCCTGCC others(26): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 292 | 0.0034 | -33 | c.784 others(52): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 57/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53573314 | TGCAATCT others(26): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 |
a0001 | a0001c0018a0001c0019 | a0001c0018t0003a0001c0019t0003 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
2 | 212 | 0.0094 | -33 | c.631 others(50): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | TogoVar | |||||||
HYAL1_chr3_50294893_50308574 | 50302778 | GCTACCAC others(26): Show |
G | disruptive_inframe_deletion | MODERATE | NA18747.hp1 | a0010 | a0010c0008 | a0010c0008t0002 | a0010c0008t0002g0033 | 1 | 382 | 0.0026 | -33 | c.146 others(40): Show |
p.Val others(11): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 2/4 | 311/2031 | 146/1308 | 49/435 | chr3 | TogoVar | |||
HYAL3_chr3_50287832_50304405 | 50302778 | GCTACCAC others(26): Show |
G | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 376 | 0.0027 | -33 | c.-36 others(44): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 3374 | chr3 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70864330 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0048 | a0001c0048t0003 | a0001c0048t0003g0139 | 1 | 8 | 0.1250 | -33 | c.114 others(54): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 67/85 | chr16 | TogoVar | |||||||
ICAM3_chr19_10328776_10344624 | 10331360 | AAAAAAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 438 | 0.0023 | -33 | c.*24 others(44): Show |
ICAM3 | ENSG00000076662.11 | transcript | ENST00000160262.10 | protein_coding | 2415 | chr19 | TogoVar | |||||||
IFNL3_chr19_39238553_39250006 | 39241923 | GTGATGAC others(26): Show |
G | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -33 | c.*16 others(44): Show |
IFNL3 | ENSG00000197110.10 | transcript | ENST00000413851.3 | protein_coding | 1629 | chr19 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01433.hp2 HG03139.hp2 others(2): Show |
a0001a0003a0011others(1): Show | a0001c0002a0003c0012a0011c0017others(1): Show | a0001c0002t0006a0001c0002t0007a0003c0012t0006others(2): Show | a0001c0002t0006g0192 a0001c0002t0007g0060 a0003c0012t0006g0285 others(2): Show |
5 | 25 | 0.2000 | -33 | c.684 others(52): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL11_chr19_55359382_55375463 | 55361961 | GGGCCCTT others(26): Show |
G | downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 350 | 0.0029 | -33 | c.*40 others(44): Show |
IL11 | ENSG00000095752.7 | transcript | ENST00000264563.7 | protein_coding | 2420 | chr19 | TogoVar | |||||||
IL1R2_chr2_101986960_102033544 | 102029435 | AGACTTGC others(26): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 424 | 0.0024 | -33 | c.*10 others(44): Show |
IL1R2 | ENSG00000115590.14 | transcript | ENST00000332549.8 | protein_coding | 892 | chr2 | TogoVar | |||||||
IL5RA_chr3_3061324_3115374 | 3085912 | CTGCTGTG others(26): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0154a0001c0001t0169a0002c0002t0178 | a0001c0001t0154g0398 a0001c0001t0169g0434 a0002c0002t0178g0444 |
3 | 452 | 0.0066 | -33 | c.994 others(50): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
INF2_chr14_104684618_104727535 | 104720513 | CTCGTGTG others(26): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(189): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
192 | 372 | 0.5161 | -33 | c.*17 others(44): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5175 | chr14 | TogoVar | ||||||
INF2_chr14_104684618_104727535 | 104720547 | CTCGTGTG others(26): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0050 a0001c0002t0036g0158 |
2 | 378 | 0.0053 | -33 | c.*17 others(44): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5209 | chr14 | TogoVar | ||||||
INF2_chr14_104684618_104727535 | 104720720 | CTCGTGTG others(26): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00741.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0018others(10): Show | a0001c0001t0003g0194 a0001c0002t0003g0004 a0001c0002t0003g0026 others(23): Show |
40 | 378 | 0.1058 | -33 | c.*19 others(44): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5382 | chr14 | TogoVar | ||||||
INHBB_chr2_120341136_120356803 | 120356024 | TATAATCT others(26): Show |
T | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 454 | 0.0022 | -33 | c.*61 others(44): Show |
INHBB | ENSG00000163083.6 | transcript | ENST00000295228.4 | protein_coding | 4222 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 205988885 | TAAAATAA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03540.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0022 | a0001c0001t0002g0034 a0001c0001t0013g0032 a0001c0001t0013g0037 others(1): Show |
4 | 328 | 0.0122 | -33 | c.*15 others(46): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 4835 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0008a0001c0001t0030a0001c0003t0002others(5): Show | a0001c0001t0008g0317 a0001c0001t0030g0063 a0001c0003t0002g0203 others(14): Show |
17 | 18 | 0.9444 | -33 | c.-12 others(52): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233065619 | CTTTCTTT others(26): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0252 a0001c0001t0009g0251 |
2 | 308 | 0.0065 | -33 | c.134 others(50): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03831.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0003 | a0001c0004t0002g0301 a0002c0002t0003g0197 |
2 | 33 | 0.0606 | -33 | c.235 others(50): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSIG1_chr7_155292878_155315235 | 155313553 | TCTCCTCA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 442 | 0.0023 | -33 | c.*52 others(44): Show |
INSIG1 | ENSG00000186480.13 | transcript | ENST00000340368.9 | protein_coding | 3319 | chr7 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124563 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0234 | 1 | 295 | 0.0034 | -33 | c.325 others(50): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar |