| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02074.hp1 HG02165.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0012others(6): Show | 20 | 394 | 0.0508 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01928.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0019others(6): Show | 10 | 394 | 0.0254 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18944.hp1 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0093others(1): Show | 4 | 394 | 0.0102 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 394 | 0.0025 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(121): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0021others(59): Show | 124 | 394 | 0.3147 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 394 | 0.0025 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(666): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 394 | 0.0025 | 673 | c.-32 others(684): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(666): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0042 | 1 | 114 | 0.0088 | 673 | c.-25 others(692): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(666): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 334 | 0.0030 | 673 | c.657 others(688): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(666): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 238 | 0.0042 | 673 | c.392 others(690): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917075 | G | GTGGGGCT others(666): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 344 | 0.0029 | 673 | c.218 others(688): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(666): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0236 | 1 | 344 | 0.0029 | 673 | c.218 others(690): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(666): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0025 | a0002c0025t0002 | a0002c0025t0002g0151 | 1 | 204 | 0.0049 | 673 | c.213 others(692): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739135 | A | AGCCTGAT others(666): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 NA19010.hp1 NA19091.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002a0003c0004t0003g0062 | 3 | 431 | 0.0070 | 673 | c.*14 others(684): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 551 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739261 | G | GTGGGAAG others(666): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19004.hp2 NA19089.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002a0003c0004t0003g0031 | 3 | 431 | 0.0070 | 673 | c.*15 others(684): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 677 | chr17 | TogoVar | ||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(667): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 | 1 | 249 | 0.0040 | 674 | c.49- others(689): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318048 | T | TACCTCCC others(667): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0003 | a0004c0003t0014 | a0004c0003t0014g0220 | 1 | 268 | 0.0037 | 674 | c.-37 others(685): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3665 | chr5 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCCGTG others(667): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 246 | 0.0041 | 674 | c.-17 others(685): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | ||||||
| BSND_chr1_54993933_55022172 | 55003042 | G | GTGATGAT others(667): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(195): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0065others(246): Show | 334 | 448 | 0.7455 | 674 | c.178 others(691): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BSND_chr1_54993933_55022172 | 55003042 | G | GTGATGAT others(667): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0155 | 1 | 448 | 0.0022 | 674 | c.178 others(691): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BSND_chr1_54993933_55022172 | 55003042 | G | GTGATGAT others(667): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02055.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0016a0001c0001t0048a0001c0001t0050others(16): Show | a0001c0001t0016g0151a0001c0001t0016g0153a0001c0001t0048g0053others(19): Show | 25 | 448 | 0.0558 | 674 | c.178 others(691): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1116289 | G | GGATGATG others(667): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183a0001c0001t0004g0189a0001c0001t0004g0194 | 3 | 326 | 0.0092 | 674 | c.129 others(693): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(667): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0078 | 1 | 338 | 0.0030 | 674 | c.300 others(691): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1204889 | G | GGAGGGGT others(667): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 338 | 0.0030 | 674 | c.245 others(691): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(667): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 398 | 0.0025 | 674 | c.666 others(689): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(667): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0274 | 1 | 284 | 0.0035 | 674 | c.411 others(691): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293570 | C | CCACCTTC others(667): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0194 | 1 | 284 | 0.0035 | 674 | c.411 others(691): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(667): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0037 | 1 | 256 | 0.0039 | 674 | c.-45 others(695): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(667): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(9): Show | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0101others(19): Show | 22 | 184 | 0.1196 | 674 | c.449 others(691): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
| CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(667): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 184 | 0.0054 | 674 | c.449 others(691): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
| CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(667): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0002t0011 | a0001c0001t0007g0127a0001c0001t0009g0028a0001c0001t0009g0046others(1): Show | 4 | 184 | 0.0217 | 674 | c.449 others(691): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
| CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(667): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0039a0001c0002t0019others(2): Show | a0001c0001t0008g0125a0001c0001t0039g0122a0001c0002t0019g0037others(2): Show | 5 | 184 | 0.0272 | 674 | c.449 others(691): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
| CENPI_chrX_101093204_101171126 | 101137986 | C | CTGTCTTT others(667): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0247a0001c0001t0010g0274 | 2 | 282 | 0.0071 | 674 | c.147 others(693): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CENPI_chrX_101093204_101171126 | 101137986 | C | CTTTCTTT others(667): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02109.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0010a0001c0001t0014a0001c0002t0007others(2): Show | a0001c0001t0010g0145a0001c0001t0014g0193a0001c0001t0014g0194others(3): Show | 6 | 282 | 0.0213 | 674 | c.147 others(693): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CENPI_chrX_101093204_101171126 | 101137986 | C | CTTTCTTT others(667): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020 | a0001c0001t0011g0137a0001c0001t0011g0188a0001c0001t0011g0189others(1): Show | 4 | 282 | 0.0142 | 674 | c.147 others(693): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02615.hp1 others(4): Show |
a0005a0012a0016 | a0005c0004a0012c0015a0016c0022 | a0005c0004t0001a0012c0015t0001a0016c0022t0001 | a0005c0004t0001g0046a0005c0004t0001g0168a0005c0004t0001g0173others(4): Show | 7 | 428 | 0.0164 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0107 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0033 | a0033c0054 | a0033c0054t0001 | a0033c0054t0001g0114 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0115 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0116 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0073 | a0003c0073t0001 | a0003c0073t0001g0067 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18964.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0179a0003c0003t0001g0058 | 2 | 428 | 0.0047 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(667): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 428 | 0.0023 | 674 | c.217 others(689): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81704622 | T | TCTCCTCC others(667): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0003g0015a0001c0001t0003g0098a0001c0001t0006g0182others(5): Show | 8 | 268 | 0.0299 | 674 | c.209 others(691): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81704622 | T | TCTCCTCC others(667): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 268 | 0.0037 | 674 | c.209 others(691): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(667): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0163 | 1 | 270 | 0.0037 | 674 | c.162 others(695): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |