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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(567): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 188 | 0.0053 | 574 | c.152 others(593): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82848817 | T | TCTGCTGC others(567): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0015 | 1 | 318 | 0.0031 | 574 | c.131 others(595): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1628875 | G | GTGAGGCG others(567): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0176 | 1 | 352 | 0.0028 | 574 | c.299 others(591): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TDRD12_chr19_32714767_32834580 | 32729778 | C | CTTTTTTT others(567): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0053 | 1 | 380 | 0.0026 | 574 | c.25- others(589): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
THEG_chr19_356747_381026 | 377024 | C | CCCCCCCC others(567): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0238 | 1 | 370 | 0.0027 | 574 | c.-10 others(585): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 999 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377137 | C | CCCCACCC others(567): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 370 | 0.0027 | 574 | c.-11 others(585): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1112 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377209 | C | CCTCTGTG others(567): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0012 | a0003c0012t0061 | a0003c0012t0061g0131 | 1 | 370 | 0.0027 | 574 | c.-12 others(585): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1184 | chr19 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(567): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0173 | 1 | 256 | 0.0039 | 574 | c.924 others(591): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(567): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0167 | 1 | 256 | 0.0039 | 574 | c.924 others(591): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287724 | T | TGCCGCAG others(567): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 348 | 0.0029 | 574 | c.519 others(589): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAC others(567): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0231 | 1 | 348 | 0.0029 | 574 | c.519 others(589): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(567): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 272 | 0.0037 | 574 | c.*28 others(585): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(567): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 272 | 0.0037 | 574 | c.*29 others(585): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152135 | A | AGTGGGGG others(567): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 228 | 0.0044 | 574 | c.*47 others(585): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4393 | chr4 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142241901 | C | CAATCTCC others(567): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 238 | 0.0042 | 574 | c.144 others(595): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142241901 | C | CAATCTCC others(567): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0032a0001c0001t0002g0048a0001c0001t0002g0078others(26): Show | 29 | 238 | 0.1219 | 574 | c.144 others(595): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142241901 | C | CAATCTCC others(567): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0208 | 1 | 238 | 0.0042 | 574 | c.144 others(595): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3269344 | G | GTTCCTGC others(567): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0062a0001c0002t0109 | a0001c0002t0062g0090a0001c0002t0109g0286 | 2 | 288 | 0.0069 | 574 | c.64- others(589): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028634 | C | CCTCGTAA others(567): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0091 | 1 | 224 | 0.0045 | 574 | c.225 others(593): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(567): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 338 | 0.0030 | 574 | c.*35 others(593): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870274 | A | ACACCCCA others(567): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 338 | 0.0030 | 574 | c.*35 others(593): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(567): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 344 | 0.0029 | 574 | c.218 others(589): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679011 | T | TATAAATA others(567): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0080 | 1 | 250 | 0.0040 | 574 | c.82+ others(589): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(567): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0037 | a0001c0037t0037 | a0001c0037t0037g0199 | 1 | 204 | 0.0049 | 574 | c.213 others(593): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1357086 | T | CAGAGCAG others(567): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0013 | a0001c0003t0001g0090a0001c0003t0013g0088a0001c0003t0013g0089others(1): Show | 4 | 400 | 0.0100 | 574 | c.117 others(593): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 7/13 | chr4 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675052 | T | TGCCTCCC others(567): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0274 | 1 | 326 | 0.0031 | 574 | c.483 others(589): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(567): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0189 | 2 | 246 | 0.0081 | 574 | c.-10 others(591): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(568): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 575 | c.-10 others(586): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578173 | C | CCTATATG others(568): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0008 | a0001c0008t0002a0001c0008t0004 | a0001c0008t0002g0013a0001c0008t0004g0012 | 2 | 226 | 0.0089 | 575 | c.137 others(596): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(568): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 352 | 0.0028 | 575 | c.*51 others(586): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142445752 | C | CTCAGCAT others(568): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 310 | 0.0032 | 575 | c.-45 others(586): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3896 | chr8 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318246 | C | CACCTCCC others(568): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 268 | 0.0037 | 575 | c.-35 others(586): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3467 | chr5 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350085 | G | GGGGAAGG others(568): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 334 | 0.0030 | 575 | c.838 others(590): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130050075 | G | GGGGGGCA others(568): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 308 | 0.0033 | 575 | c.*46 others(586): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2028 | chr8 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82971840 | G | GACCACAC others(568): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0200 | 1 | 266 | 0.0038 | 575 | c.460 others(592): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972018 | T | TAGAAGGA others(568): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 266 | 0.0038 | 575 | c.460 others(592): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
BRD3OS_chr9_134020481_134036587 | 134025267 | C | CAGCCCCT others(568): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002 | 1 | 334 | 0.0030 | 575 | c.-10 others(586): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 213 | chr9 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279069 | A | AGGGAGGG others(568): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0219 | 1 | 410 | 0.0024 | 575 | c.465 others(590): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(568): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 338 | 0.0030 | 575 | c.300 others(592): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1190874 | C | CTCTCTGA others(568): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01257.hp1 others(5): Show |
a0002a0003a0021others(1): Show | a0002c0008a0002c0035a0003c0107others(2): Show | a0002c0008t0005a0002c0035t0001a0003c0107t0004others(2): Show | a0002c0008t0005g0252a0002c0035t0001g0172a0002c0035t0001g0288others(4): Show | 8 | 338 | 0.0237 | 575 | c.300 others(592): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(568): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0194 | 1 | 330 | 0.0030 | 575 | c.907 others(590): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181925 | C | CTCACATA others(568): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 460 | 0.0022 | 575 | c.193 others(592): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(568): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0103 | 1 | 396 | 0.0025 | 575 | c.349 others(590): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(568): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 396 | 0.0025 | 575 | c.349 others(590): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214072 | C | CTATATAT others(568): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0254 | 1 | 396 | 0.0025 | 575 | c.349 others(590): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(568): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 256 | 0.0039 | 575 | c.-45 others(596): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61353603 | A | ACTGCCTT others(568): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0015 | a0002c0015t0007 | a0002c0015t0007g0025 | 1 | 106 | 0.0094 | 575 | c.169 others(594): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357778 | G | GGAGGTGG others(568): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0133 | 1 | 236 | 0.0042 | 575 | c.351 others(594): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(568): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0192 | 2 | 428 | 0.0047 | 575 | c.217 others(590): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(568): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0180 | 1 | 270 | 0.0037 | 575 | c.162 others(596): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |