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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(930): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001a0002a0007 | a0001c0026a0001c0050a0002c0028others(1): Show | a0001c0026t0005a0001c0050t0005a0002c0028t0005others(1): Show | a0001c0026t0005g0050a0001c0026t0005g0133a0001c0050t0005g0038others(2): Show | 5 | 248 | 0.0202 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(930): Show |
intron_variant | MODIFIER | NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0044a0001c0003t0005g0019 | 2 | 248 | 0.0081 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02071.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(10): Show | a0001c0001t0002g0203a0001c0002t0002g0116a0001c0002t0002g0178others(18): Show | 21 | 248 | 0.0847 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0115 | 1 | 248 | 0.0040 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0232 | 1 | 248 | 0.0040 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(930): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0234 | 1 | 248 | 0.0040 | 937 | c.387 others(956): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(930): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 150 | 0.0067 | 937 | c.276 others(956): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(930): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0101 | 1 | 226 | 0.0044 | 937 | c.217 others(956): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(930): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0163 | 1 | 226 | 0.0044 | 937 | c.217 others(956): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(930): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0013 | a0005c0013t0009 | a0005c0013t0009g0033 | 1 | 58 | 0.0172 | 937 | c.234 others(958): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0284a0001c0002t0002g0285 | 2 | 418 | 0.0048 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0166 | 1 | 418 | 0.0024 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(930): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0295 | 1 | 418 | 0.0024 | 937 | c.*51 others(948): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(930): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 236 | 0.0042 | 937 | c.342 others(958): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56097876 | A | AATATATA others(930): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0008 | a0008c0012 | a0008c0012t0004 | a0008c0012t0004g0030 | 1 | 264 | 0.0038 | 937 | c.181 others(956): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(930): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 240 | 0.0042 | 937 | c.*31 others(948): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(930): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0134 | a0134c0034 | a0134c0034t0001 | a0134c0034t0001g0228 | 1 | 252 | 0.0040 | 937 | c.118 others(956): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(930): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 350 | 0.0029 | 937 | c.94- others(950): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152562 | A | ACCACCAC others(930): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 274 | 0.0037 | 937 | c.804 others(954): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(930): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 204 | 0.0049 | 937 | c.978 others(954): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(930): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0011 | a0011c0032 | a0011c0032t0003 | a0011c0032t0003g0220 | 1 | 270 | 0.0037 | 937 | c.178 others(954): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(930): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0070 | 1 | 296 | 0.0034 | 937 | c.368 others(954): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139726624 | C | CAAAAAAG others(930): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 152 | 0.0066 | 937 | c.233 others(954): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(930): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 280 | 0.0036 | 937 | c.641 others(952): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544487 | G | GGGGACAG others(930): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0232 | 1 | 286 | 0.0035 | 937 | c.153 others(956): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(930): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 208 | 0.0048 | 937 | c.279 others(952): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(930): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0031 | a0031c0061 | a0031c0061t0001 | a0031c0061t0001g0047 | 1 | 308 | 0.0033 | 937 | c.371 others(954): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(930): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0026 | a0026c0081 | a0026c0081t0001 | a0026c0081t0001g0034 | 1 | 308 | 0.0033 | 937 | c.371 others(954): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 217483 | C | CTGGGGCA others(930): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0024a0001c0001t0005g0100 | 2 | 133 | 0.0150 | 937 | c.728 others(954): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(930): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 324 | 0.0031 | 937 | c.115 others(954): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(930): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0267 | 1 | 350 | 0.0029 | 937 | c.440 others(954): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(930): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01928.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0068 | a0001c0001t0001g0160a0001c0001t0001g0171a0001c0001t0068g0176 | 3 | 322 | 0.0093 | 937 | c.597 others(954): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82846319 | C | CCTGTGCC others(930): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0023 | a0002c0023t0037 | a0002c0023t0037g0003 | 1 | 318 | 0.0031 | 937 | c.131 others(958): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | chr17 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0229 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0060others(1): Show | 29 | 432 | 0.0671 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18952.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0059a0001c0001t0001g0104 | 5 | 432 | 0.0116 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02027.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0002a0001c0001t0001g0129a0001c0001t0001g0130others(1): Show | 23 | 432 | 0.0532 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328709 | A | ATGTTTAT others(930): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 432 | 0.0046 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 2 | 432 | 0.0046 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 2 | 432 | 0.0046 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(930): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0259 | 1 | 432 | 0.0023 | 937 | c.199 others(954): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204309 | T | TATGATGA others(930): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 174 | 0.0058 | 937 | c.41- others(954): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871138 | C | CCACACAC others(930): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 338 | 0.0030 | 937 | c.*35 others(956): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |