| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(680): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 224 | 0.0045 | 687 | c.102 others(706): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(680): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0083 | 1 | 174 | 0.0058 | 687 | c.41- others(704): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(680): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0183 | 2 | 334 | 0.0060 | 687 | c.657 others(702): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TXNDC16_chr14_52425596_52557505 | 52530406 | A | ATTATATA others(680): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 238 | 0.0042 | 687 | c.392 others(704): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(680): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 338 | 0.0030 | 687 | c.246 others(706): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZIM2_chr19_56769547_56845726 | 56772834 | A | AAAAAAAA others(680): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0099a0001c0008t0001g0100 | 2 | 370 | 0.0054 | 687 | c.*18 others(698): Show |
ZIM2 | ENSG00000269699.7 | transcript | ENST00000629319.3 | protein_coding | 1712 | chr19 | TogoVar | ||||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(680): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0134 | 1 | 322 | 0.0031 | 687 | c.4-1 others(700): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(681): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0067 | a0001c0001t0011g0018a0001c0001t0011g0019a0001c0001t0011g0020others(4): Show | 7 | 462 | 0.0152 | 688 | c.564 others(703): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
| ANO9_chr11_412938_447011 | 431309 | T | TGGGGGCT others(681): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 286 | 0.0035 | 688 | c.539 others(703): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 70496322 | A | ACACGCAC others(681): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 76 | 0.0132 | 688 | c.690 others(707): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70496322 | A | ACACGCAC others(681): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0012a0001c0004t0013 | a0001c0001t0006g0010a0001c0004t0012g0024a0001c0004t0013g0025 | 3 | 76 | 0.0395 | 688 | c.690 others(707): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82972052 | G | GGGGCCAG others(681): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0240 | 1 | 266 | 0.0038 | 688 | c.460 others(705): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82972052 | G | GGGGCCAG others(681): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0007t0005others(1): Show | a0001c0002t0002g0105a0001c0004t0001g0002a0001c0004t0001g0021others(10): Show | 14 | 266 | 0.0526 | 688 | c.460 others(705): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82972052 | G | GGGGCCAG others(681): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18995.hp2 NA19070.hp1 |
a0001a0002 | a0001c0004a0002c0015 | a0001c0004t0001a0002c0015t0003 | a0001c0004t0001g0032a0001c0004t0001g0039a0002c0015t0003g0043 | 3 | 266 | 0.0113 | 688 | c.460 others(705): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241570448 | G | GTCTGAGC others(681): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070 | 1 | 434 | 0.0023 | 688 | c.513 others(703): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKK2_chr12_121232692_121301709 | 121255330 | T | TTATATAT others(681): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18984.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0083a0003c0003t0001g0250 | 2 | 330 | 0.0061 | 688 | c.907 others(703): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(681): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0002a0008c0008t0002 | a0003c0003t0002g0377a0008c0008t0002g0302 | 2 | 460 | 0.0044 | 688 | c.193 others(705): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(681): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 256 | 0.0039 | 688 | c.-45 others(709): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02273.hp2 NA18951.hp1 others(1): Show |
a0001a0002a0003 | a0001c0024a0002c0002a0002c0013others(1): Show | a0001c0024t0005a0002c0002t0008a0002c0013t0010others(1): Show | a0001c0024t0005g0204a0002c0002t0008g0295a0002c0013t0010g0222others(1): Show | 4 | 334 | 0.0120 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0023 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0152 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0079 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0070 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0069 | a0002c0002t0069g0210 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0061 | a0002c0002t0061g0148 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0010 | a0010c0015 | a0010c0015t0029 | a0010c0015t0029g0074 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0054 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(681): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0150 | 1 | 334 | 0.0030 | 688 | c.-25 others(699): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(681): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0288 | 1 | 324 | 0.0031 | 688 | c.110 others(705): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11284413 | C | CTGTGGTG others(681): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 194 | 0.0052 | 688 | c.842 others(705): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11284414 | T | TGTGGTGG others(681): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0004a0001c0003t0005 | a0001c0002t0007g0058a0001c0003t0004g0024a0001c0003t0005g0009 | 3 | 194 | 0.0155 | 688 | c.842 others(705): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(681): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 354 | 0.0028 | 688 | c.*69 others(699): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(681): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0141 | 1 | 236 | 0.0042 | 688 | c.342 others(709): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81704622 | T | TCTCCTCC others(681): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0001 | 1 | 268 | 0.0037 | 688 | c.209 others(705): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(681): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0082a0001c0001t0003g0003a0001c0001t0006g0107others(2): Show | 5 | 158 | 0.0317 | 688 | c.275 others(707): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| COL4A2_chr13_110302284_110518209 | 110497725 | C | CCAGCACA others(681): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0017 | a0017c0061 | a0017c0061t0011 | a0017c0061t0011g0039 | 1 | 372 | 0.0027 | 688 | c.376 others(707): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587977 | C | CCGTGTCA others(681): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0168 | 1 | 348 | 0.0029 | 688 | c.928 others(703): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CSMD1_chr8_2930361_4999914 | 3558404 | G | GATGAATG others(681): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0065 | a0005c0065t0023 | a0005c0065t0023g0050 | 1 | 126 | 0.0079 | 688 | c.134 others(709): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(681): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0226 | 1 | 230 | 0.0044 | 688 | c.724 others(707): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(681): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 294 | 0.0034 | 688 | c.-38 others(699): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167504 | G | GTGGTGGT others(681): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0029a0001c0007t0006 | a0001c0001t0029g0232a0001c0007t0006g0082 | 2 | 250 | 0.0080 | 688 | c.188 others(707): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137355488 | A | AGAAAGGG others(681): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 82 | 0.0122 | 688 | c.758 others(703): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| FUT7_chr9_137025174_137037088 | 137034336 | G | GGGGGGTT others(681): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 358 | 0.0028 | 688 | c.-23 others(699): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2249 | chr9 | TogoVar | ||||||
| GFPT2_chr5_180295698_180358336 | 180299979 | A | AATGGTGG others(681): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0051 | 1 | 412 | 0.0024 | 688 | c.*15 others(699): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 718 | chr5 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46635199 | G | GACCCCGG others(681): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033 | 1 | 328 | 0.0031 | 688 | c.163 others(705): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46635199 | G | GACCCCGG others(681): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 328 | 0.0031 | 688 | c.163 others(705): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
| GRAMD4_chr22_46615386_46684785 | 46635552 | G | GTCTTCCC others(681): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 328 | 0.0031 | 688 | c.163 others(705): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(681): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0092 | 1 | 128 | 0.0078 | 688 | c.116 others(707): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(681): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 323 | 0.0031 | 688 | c.-21 others(699): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar |