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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLT1D1_chr12_128848478_128989968 | 128971756 | TCCTCCCT others(48): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01192.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0221 a0001c0001t0006g0001 others(2): Show |
5 | 320 | 0.0156 | -55 | c.880 others(74): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77641080 | GGGAGGGG others(48): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0160 | 1 | 240 | 0.0042 | -55 | c.124 others(72): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132816659 | CCTGGAGA others(48): Show |
C | frameshift_variant | HIGH | NA18939.hp2 | a0020 | a0020c0045 | a0020c0045t0002 | a0020c0045t0002g0234 | 1 | 308 | 0.0033 | -55 | c.232 others(62): Show |
p.Pro others(4): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 3/24 | 536/8938 | 232/4497 | 78/1498 | chr12 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136601 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | HG02897.hp1 | a0038 | a0038c0059 | a0038c0059t0008 | a0038c0059t0008g0102 | 1 | 204 | 0.0049 | -55 | c.76_ others(61): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 221/3822 | 76/2007 | 26/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136619 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA19002.hp2 | a0058 | a0058c0063 | a0058c0063t0001 | a0058c0063t0001g0106 | 1 | 204 | 0.0049 | -55 | c.58_ others(61): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 203/3822 | 58/2007 | 20/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136637 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA18974.hp2 | a0055 | a0055c0062 | a0055c0062t0001 | a0055c0062t0001g0105 | 1 | 204 | 0.0049 | -55 | c.40_ others(60): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 185/3822 | 40/2007 | 14/668 | chr15 | TogoVar | |||
GP6_chr19_55008705_55043264 | 55029338 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0404 | 1 | 441 | 0.0023 | -55 | c.326 others(72): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GPC1_chr2_240430663_240473076 | 240453307 | CGCTCCCA others(48): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA20752.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0050 a0002c0007t0001g0321 |
2 | 398 | 0.0050 | -55 | c.167 others(72): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92527152 | GAAAGAAA others(48): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | -55 | c.156 others(78): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GRHPR_chr9_37417696_37441990 | 37418280 | TAACACAT others(48): Show |
T | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | -55 | c.-44 others(66): Show |
GRHPR | ENSG00000137106.18 | transcript | ENST00000318158.11 | protein_coding | 4415 | chr9 | TogoVar | |||||||
GRIN2B_chr12_13532337_13986602 | 13607170 | AATATATA others(48): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0028 | a0001c0028t0045 | a0001c0028t0045g0042 | 1 | 194 | 0.0052 | -55 | c.201 others(74): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234327 | AACATATT others(48): Show |
A | downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -55 | c.*38 others(66): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3557 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234362 | AACATATT others(48): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 |
4 | 408 | 0.0098 | -55 | c.*38 others(66): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3592 | chr18 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27888427 | TCTTTCTT others(48): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0035a0001c0002t0047 | a0001c0001t0003g0115 a0001c0002t0035g0032 a0001c0002t0047g0160 |
3 | 240 | 0.0125 | -55 | c.398 others(72): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315819 | CACACACA others(48): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02451.hp1 others(1): Show |
a0001a0011 | a0001c0003a0011c0031 | a0001c0003t0002a0011c0031t0005 | a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0101 others(1): Show |
4 | 155 | 0.0258 | -55 | c.488 others(70): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696953 | ATATAAAG others(48): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01109.hp1 others(36): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0130 a0001c0001t0001g0135 others(35): Show |
39 | 236 | 0.1653 | -55 | c.-56 others(64): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 355 | chr12 | TogoVar | |||||||
H3-7_chr1_143900510_143910977 | 143909167 | ACCCGGGA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 300 | 0.0033 | -55 | c.-32 others(66): Show |
H3-7 | ENSG00000273213.4 | transcript | ENST00000392948.5 | protein_coding | 3191 | chr1 | TogoVar | |||||||
HCAR1_chr12_122721076_122735844 | 122734131 | CTGGTCAG others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0000 | 1 | 436 | 0.0023 | -55 | c.-38 others(66): Show |
HCAR1 | ENSG00000196917.6 | transcript | ENST00000432564.3 | protein_coding | 3288 | chr12 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239263275 | GCCCAGCC others(48): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0052a0001c0001t0056others(7): Show | a0001c0001t0003g0093 a0001c0001t0052g0073 a0001c0001t0056g0127 others(7): Show |
10 | 242 | 0.0413 | -55 | c.23- others(72): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059681 | CATAATAT others(48): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 |
3 | 360 | 0.0083 | -55 | c.226 others(74): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41605128 | AAGGGAAG others(48): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0116 | 1 | 134 | 0.0075 | -55 | c.-52 others(76): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
HMSD_chr18_63944301_63966835 | 63949289 | GCCCGCCT others(48): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18992.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0027 | 2 | 404 | 0.0050 | -55 | c.-21 others(64): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1/4 | 4112 | chr18 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44435982 | TTGTGGTT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0318 | 1 | 322 | 0.0031 | -55 | c.*63 others(66): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 3138 | chr20 | TogoVar | |||||||
HNRNPL_chr19_38831370_38854986 | 38854871 | CCACCTCA others(48): Show |
C | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0059 | 1 | 392 | 0.0026 | -55 | c.-49 others(66): Show |
HNRNPL | ENSG00000104824.18 | transcript | ENST00000221419.10 | protein_coding | 4886 | chr19 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23277641 | GAGGCTGA others(48): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0138 | 1 | 394 | 0.0025 | -55 | c.41- others(68): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27151625 | CATCGAAA others(48): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 326 | 0.0031 | -55 | c.-49 others(72): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25710453 | ATTTTTAC others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show |
121 | 164 | 0.7378 | -55 | c.734 others(74): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HUNK_chr21_31868020_32009064 | 31919043 | GGGGCTGG others(48): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0228 | 1 | 328 | 0.0031 | -55 | c.262 others(72): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24162723 | CTTTTCTT others(48): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0332 a0001c0002t0001g0169 |
2 | 396 | 0.0051 | -55 | c.368 others(72): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(48): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01255.hp2 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0037others(3): Show | a0001c0001t0005a0001c0001t0035a0001c0002t0007others(4): Show | a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0120 others(9): Show |
12 | 310 | 0.0387 | -55 | c.684 others(74): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL15_chr4_141631583_141738987 | 141712586 | TTATATAT others(48): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 298 | 0.0034 | -55 | c.-99 others(72): Show |
IL15 | ENSG00000164136.17 | transcript | ENST00000320650.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218751 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0065 others(10): Show |
14 | 362 | 0.0387 | -55 | c.-12 others(72): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218770 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0005g0036 others(2): Show |
5 | 362 | 0.0138 | -55 | c.-12 others(72): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366944 | CGGGGTGC others(48): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 115 | 0.0087 | -55 | c.874 others(72): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IMPA1_chr8_81651914_81691325 | 81685202 | TAGATACT others(48): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0245 | 1 | 380 | 0.0026 | -55 | c.-25 others(71): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031557 | GGGAGGAA others(48): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG04204.hp2 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0001 a0001c0004t0011g0002 |
2 | 282 | 0.0071 | -55 | c.290 others(74): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132741723 | TGTCCGCT others(48): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(114): Show |
117 | 204 | 0.5735 | -55 | c.733 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764435 | CGGTGGGA others(48): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0018a0001c0005t0019 | a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 others(1): Show |
4 | 204 | 0.0196 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764478 | TCAGTCCT others(48): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0002g0029 |
3 | 204 | 0.0147 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764662 | CGTGGTGA others(48): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0111 |
2 | 204 | 0.0098 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764977 | CGGTGGGA others(48): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0001t0002g0094 a0001c0004t0002g0013 a0001c0004t0002g0014 others(4): Show |
7 | 204 | 0.0343 | -55 | c.904 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5K_chr17_1489577_1521612 | 1508734 | GTGGGGCA others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0008a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(50): Show |
92 | 420 | 0.2191 | -55 | c.554 others(70): Show |
INPP5K | ENSG00000132376.20 | transcript | ENST00000421807.7 | protein_coding | 5/11 | chr17 | TogoVar | |||||||
INPP5K_chr17_1489577_1521612 | 1508782 | CGGTCAGC others(48): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 420 | 0.0024 | -55 | c.554 others(70): Show |
INPP5K | ENSG00000132376.20 | transcript | ENST00000421807.7 | protein_coding | 5/11 | chr17 | TogoVar | |||||||
INSIG2_chr2_118083471_118115997 | 118093442 | TGATGATG others(48): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 3 | 440 | 0.0068 | -55 | c.-13 others(74): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236357749 | TATATAAA others(48): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0044 a0001c0001t0002g0191 a0001c0001t0004g0052 others(6): Show |
9 | 208 | 0.0433 | -55 | c.186 others(74): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2583866 | TGCTGGGT others(48): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0015 | a0001c0010t0009a0002c0015t0002 | a0001c0010t0009g0005 a0002c0015t0002g0075 a0002c0015t0002g0076 others(1): Show |
4 | 416 | 0.0096 | -55 | c.774 others(70): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2583928 | CGGCGGGG others(48): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0009 | a0009c0013 | a0009c0013t0022a0009c0013t0068 | a0009c0013t0022g0051 a0009c0013t0022g0084 a0009c0013t0022g0154 others(1): Show |
4 | 416 | 0.0096 | -55 | c.774 others(70): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2591875 | ACCTCCCA others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0010others(29): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(82): Show | a0001c0001t0001g0343 a0001c0001t0005g0028 a0001c0001t0005g0041 others(162): Show |
166 | 416 | 0.3990 | -55 | c.124 others(72): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 130968 | CCCCCACA others(48): Show |
C | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 |
a0008 | a0008c0016 | a0008c0016t0007a0008c0016t0061 | a0008c0016t0007g0058 a0008c0016t0061g0015 |
2 | 282 | 0.0071 | -55 | c.903 others(72): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ISG20_chr15_88634016_88661483 | 88652417 | TCCTCCCC others(48): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 436 | 0.0023 | -55 | c.429 others(70): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |