| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HES6_chr2_238233267_238245038 | 238236585 | CAGAGAAG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 440 | 0.0046 | -35 | c.*22 others(46): Show |
HES6 | ENSG00000144485.11 | transcript | ENST00000272937.10 | protein_coding | 1681 | chr2 | TogoVar | ||||||
| HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0219 | 3 | 396 | 0.0076 | -35 | c.445 others(52): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| HEXD_chr17_82413347_82447645 | 82433106 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 400 | 0.0025 | -35 | c.283 others(50): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| HEXD_chr17_82413347_82447645 | 82433108 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG02698.hp2 |
a0001a0005 | a0001c0003a0005c0012 | a0001c0003t0001a0005c0012t0001 | a0001c0003t0001g0082a0001c0003t0001g0113a0005c0012t0001g0031 | 3 | 400 | 0.0075 | -35 | c.283 others(50): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99646802 | GATATGAT others(28): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0033 | a0001c0002t0002g0066a0001c0002t0002g0067a0001c0002t0003g0068others(4): Show | 7 | 374 | 0.0187 | -35 | c.255 others(52): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99656841 | AAGGAAGG others(28): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01515.hp1 others(11): Show |
a0001a0002 | a0001c0007a0002c0001a0002c0005 | a0001c0007t0003a0002c0001t0001a0002c0001t0003others(3): Show | a0001c0007t0003g0277a0002c0001t0001g0219a0002c0001t0001g0225others(11): Show | 14 | 374 | 0.0374 | -35 | c.903 others(50): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99656857 | AAGGAAGG others(28): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01109.hp2 others(28): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0002t0004a0001c0003t0002others(4): Show | a0001c0002t0002g0024a0001c0002t0002g0105a0001c0002t0004g0151others(27): Show | 31 | 374 | 0.0829 | -35 | c.903 others(50): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HLA-DRB1_chr6_32573775_32594848 | 32583991 | TCTCTCTG others(28): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01993.hp2 others(6): Show |
a0009a0026 | a0009c0009a0026c0029 | a0009c0009t0007a0026c0029t0007 | a0009c0009t0007g0003a0026c0029t0007g0092 | 9 | 208 | 0.0433 | -35 | c.370 others(49): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
| HMBOX1_chr8_28885395_29058262 | 28960753 | CTTTTTCT others(28): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0084a0001c0001t0003g0007a0001c0001t0003g0008others(53): Show | 56 | 344 | 0.1628 | -35 | c.-57 others(52): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HMCN1_chr1_185729391_186195949 | 186086791 | TAGATGAT others(28): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
a0018a0023a0026others(1): Show | a0018c0046a0023c0048a0026c0040others(1): Show | a0018c0046t0001a0023c0048t0002a0026c0040t0003others(1): Show | a0018c0046t0001g0059a0023c0048t0002g0026a0026c0040t0003g0086others(1): Show | 4 | 92 | 0.0435 | -35 | c.904 others(52): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35378805 | CAACTGGT others(28): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0183 | 1 | 384 | 0.0026 | -35 | c.-23 others(46): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 2290 | chr22 | TogoVar | ||||||
| HMSD_chr18_63944301_63966835 | 63963045 | GTTTTCTT others(28): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 2 | 404 | 0.0050 | -35 | c.*26 others(46): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1211 | chr18 | TogoVar | ||||||
| HNRNPA1L3_chr16_51640757_51652079 | 51651794 | AAGGGCTG others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -35 | c.*50 others(46): Show |
HNRNPA1L3 | ENSG00000224578.5 | transcript | ENST00000698152.1 | protein_coding | 4716 | chr16 | TogoVar | ||||||
| HOMER1_chr5_79367636_79519134 | 79387107 | CACAAGGT others(28): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 290 | 0.0035 | -35 | c.876 others(52): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
| HOMEZ_chr14_23267422_23291132 | 23276851 | ACTCGGGC others(28): Show |
A | frameshift_variant | HIGH | HG01192.hp1 | a0011 | a0011c0033 | a0011c0033t0002 | a0011c0033t0002g0219 | 1 | 394 | 0.0025 | -35 | c.342 others(42): Show |
p.Trp others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 556/4986 | 342/1653 | 114/550 | chr14 | TogoVar | ||
| HOXC9_chr12_53995161_54008337 | 54005538 | GACACTTT others(28): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | -35 | c.*28 others(46): Show |
HOXC9 | ENSG00000180806.5 | transcript | ENST00000303450.5 | protein_coding | 2202 | chr12 | TogoVar | ||||||
| HPGDS_chr4_94293535_94347836 | 94340293 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 312 | 0.0032 | -35 | c.-10 others(52): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| HS6ST3_chr13_96085107_96844562 | 96118649 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0106 | 1 | 116 | 0.0086 | -35 | c.707 others(54): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
| HSDL1_chr16_84117141_84150177 | 84124955 | TAACAAAT others(28): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0032others(115): Show | 149 | 448 | 0.3326 | -35 | c.895 others(50): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 5/5 | chr16 | TogoVar | ||||||
| HTATIP2_chr11_20358714_20388782 | 20375543 | CCTGGGCA others(28): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0132 | 1 | 420 | 0.0024 | -35 | c.304 others(52): Show |
HTATIP2 | ENSG00000109854.14 | transcript | ENST00000451739.7 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
| ICA1L_chr2_202768176_202876766 | 202839586 | GTGTGTGT others(28): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0176 | 1 | 330 | 0.0030 | -35 | c.-7- others(52): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18940518 | GTGGCCCA others(28): Show |
G | intron_variant | MODIFIER | NA18747.hp2 NA18984.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(1): Show | 4 | 376 | 0.0106 | -35 | c.665 others(54): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFNLR1_chr1_24149168_24192289 | 24162713 | TTCTTTCT others(28): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242a0001c0001t0002g0267 | 2 | 396 | 0.0051 | -35 | c.368 others(52): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
| IFT80_chr3_160251986_160404225 | 160312842 | GTATATTA others(28): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0150a0001c0001t0010g0114 | 2 | 212 | 0.0094 | -35 | c.958 others(52): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | ||||||
| IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02055.hp1 NA19043.hp2 others(1): Show |
a0001a0013 | a0001c0002a0001c0024a0013c0026 | a0001c0002t0002a0001c0002t0018a0001c0024t0024others(1): Show | a0001c0002t0002g0020a0001c0002t0018g0237a0001c0024t0024g0201others(1): Show | 4 | 310 | 0.0129 | -35 | c.684 others(54): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
| IGFBP1_chr7_45883488_45898660 | 45895013 | CTGGTAGA others(28): Show |
C | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 446 | 0.0022 | -35 | c.*19 others(46): Show |
IGFBP1 | ENSG00000146678.10 | transcript | ENST00000275525.8 | protein_coding | 1354 | chr7 | TogoVar | ||||||
| IGLON5_chr19_51306644_51335891 | 51311146 | GGGGCCTG others(28): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 NA19000.hp1 NA19001.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0112a0001c0001t0003g0009a0001c0001t0005g0110others(2): Show | 5 | 418 | 0.0120 | -35 | c.-70 others(44): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 497 | chr19 | TogoVar | ||||||
| IKBKE_chr1_206465476_206501889 | 206486281 | TGGCCCCG others(28): Show |
T | intron_variant | MODIFIER | NA18947.hp2 NA18948.hp1 NA18959.hp1 others(13): Show |
a0001 | a0001c0009a0001c0012 | a0001c0009t0001a0001c0009t0002a0001c0009t0009others(2): Show | a0001c0009t0001g0046a0001c0009t0001g0145a0001c0009t0001g0201others(13): Show | 16 | 460 | 0.0348 | -35 | c.161 others(54): Show |
IKBKE | ENSG00000263528.8 | transcript | ENST00000581977.7 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IL11_chr19_55359382_55375463 | 55361647 | CCAGCCTC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 352 | 0.0028 | -35 | c.*43 others(46): Show |
IL11 | ENSG00000095752.7 | transcript | ENST00000264563.7 | protein_coding | 2734 | chr19 | TogoVar | ||||||
| IL11_chr19_55359382_55375463 | 55374957 | CCCAGCCC others(28): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 352 | 0.0028 | -35 | c.-46 others(46): Show |
IL11 | ENSG00000095752.7 | transcript | ENST00000264563.7 | protein_coding | 4495 | chr19 | TogoVar | ||||||
| IL17REL_chr22_49986811_50017765 | 50004987 | AAAAAAGG others(28): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0065 | 1 | 440 | 0.0023 | -35 | c.130 others(52): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
| IL1RAPL2_chrX_104561199_105772829 | 105447782 | AAAATATA others(28): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0075others(2): Show | 5 | 141 | 0.0355 | -35 | c.698 others(54): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL21R_chr16_27397174_27457042 | 27418006 | ATTTTATT others(28): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0349 | 1 | 372 | 0.0027 | -35 | c.-16 others(54): Show |
IL21R | ENSG00000103522.17 | transcript | ENST00000337929.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IL33_chr9_6210807_6262983 | 6252043 | ACAAACAA others(28): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 NA18979.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0021a0001c0002t0002g0263a0001c0002t0002g0284others(2): Show | 7 | 362 | 0.0193 | -35 | c.343 others(50): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
| IL34_chr16_70641559_70665682 | 70644918 | AAGGAGGA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0002a0001c0005t0008a0001c0005t0013others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0007others(56): Show | 110 | 438 | 0.2511 | -35 | c.-20 others(46): Show |
IL34 | ENSG00000157368.12 | transcript | ENST00000288098.7 | protein_coding | 1640 | chr16 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1365332 | GGGTGCGC others(28): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0066 | 1 | 115 | 0.0087 | -35 | c.874 others(49): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1365602 | GGGTGAGC others(28): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0007 | 1 | 115 | 0.0087 | -35 | c.874 others(50): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1365826 | GGGGTGAG others(28): Show |
G | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 115 | 0.0087 | -35 | c.874 others(50): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1365840 | GCGCGGGG others(28): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 115 | 0.0087 | -35 | c.874 others(50): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1366309 | GGGTGAGC others(28): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0041 | 1 | 115 | 0.0087 | -35 | c.874 others(52): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1366443 | GGGGTGAG others(28): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0018 | a0004c0018t0003 | a0004c0018t0003g0112 | 1 | 115 | 0.0087 | -35 | c.874 others(52): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IMMP2L_chr7_110657644_111567492 | 111384221 | GAGGAGAA others(28): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0083 | 1 | 84 | 0.0119 | -35 | c.239 others(56): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| IMPA2_chr18_11976507_12035877 | 12033701 | AAAAGAGG others(28): Show |
A | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 364 | 0.0028 | -35 | c.*32 others(46): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 2825 | chr18 | TogoVar | ||||||
| IMPG2_chr3_101217546_101325575 | 101256075 | AAAAGAAA others(28): Show |
A | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0127 | 1 | 360 | 0.0028 | -35 | c.115 others(54): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 10/18 | chr3 | TogoVar | ||||||
| INF2_chr14_104684618_104727535 | 104715653 | CCCTGGGG others(28): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0148 | 1 | 380 | 0.0026 | -35 | c.*1+ others(48): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| INF2_chr14_104684618_104727535 | 104720787 | TCTCGTGT others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02965.hp1 |
a0001 | a0001c0005a0001c0022 | a0001c0005t0023a0001c0022t0070 | a0001c0005t0023g0113a0001c0005t0023g0164a0001c0022t0070g0119 | 3 | 380 | 0.0079 | -35 | c.*20 others(46): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5484 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
| INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02148.hp1 HG03654.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0003t0002a0001c0003t0017others(2): Show | a0001c0001t0004g0026a0001c0003t0002g0302a0001c0003t0017g0307others(2): Show | 5 | 334 | 0.0150 | -35 | c.-12 others(54): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41032038 | CACAGCAC others(28): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0093a0001c0003t0003g0100 | 2 | 282 | 0.0071 | -35 | c.290 others(54): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02698.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0205a0001c0005t0001g0059 | 2 | 310 | 0.0065 | -35 | c.235 others(52): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| INSR_chr19_7107265_7299414 | 7124565 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0013 | a0001c0013t0130 | a0001c0013t0130g0248 | 1 | 300 | 0.0033 | -35 | c.325 others(52): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar |