| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(976): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18949.hp1 NA18959.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0031 | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0002g0271a0001c0001t0012g0207a0001c0002t0001g0270others(3): Show | 6 | 363 | 0.0165 | 983 | c.680 others(1000): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(976): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0272 | 1 | 363 | 0.0028 | 983 | c.680 others(1000): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015a0001c0001t0005g0021 | 2 | 226 | 0.0089 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0043 | a0001c0001t0017g0028a0001c0001t0043g0017 | 2 | 226 | 0.0089 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0027 | 1 | 226 | 0.0044 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01433.hp1 HG01515.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0007a0001c0001t0038others(2): Show | a0001c0001t0005g0010a0001c0001t0005g0018a0001c0001t0005g0019others(9): Show | 12 | 226 | 0.0531 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG02280.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031a0001c0001t0016g0032 | 2 | 226 | 0.0089 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0104 | 1 | 226 | 0.0044 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(976): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03491.hp2 HG03492.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0037 | a0003c0003t0007g0037a0003c0003t0007g0038a0003c0003t0007g0042others(1): Show | 4 | 226 | 0.0177 | 983 | c.217 others(1002): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(976): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 326 | 0.0031 | 983 | c.327 others(1000): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61331574 | A | ACCACCTG others(976): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0032a0002c0005t0007 | a0001c0003t0032g0040a0002c0005t0007g0097 | 2 | 106 | 0.0189 | 983 | c.169 others(1002): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(976): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0091 | 1 | 276 | 0.0036 | 983 | c.*52 others(994): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(976): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073a0001c0001t0002g0095 | 2 | 244 | 0.0082 | 983 | c.*23 others(994): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(976): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0105 | 2 | 244 | 0.0082 | 983 | c.*23 others(994): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(976): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 244 | 0.0041 | 983 | c.*23 others(994): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(976): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0011 | 1 | 244 | 0.0041 | 983 | c.*23 others(994): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(976): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0084 | 1 | 369 | 0.0027 | 983 | c.-49 others(994): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 59986789 | T | TATATAAA others(976): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 46 | 0.0217 | 983 | c.279 others(1002): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(976): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 350 | 0.0029 | 983 | c.94- others(996): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(976): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 350 | 0.0029 | 983 | c.94- others(996): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(976): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 NA18964.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 308 | 0.0097 | 983 | c.-43 others(994): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
| ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(976): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 308 | 0.0033 | 983 | c.-43 others(994): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
| ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(976): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 308 | 0.0033 | 983 | c.-43 others(994): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(976): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 312 | 0.0032 | 983 | c.-41 others(998): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(976): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 312 | 0.0032 | 983 | c.-41 others(998): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(976): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0009 | 1 | 114 | 0.0088 | 983 | c.56- others(1000): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(976): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 |
a0009a0066 | a0009c0006a0066c0033 | a0009c0006t0003a0066c0033t0003 | a0009c0006t0003g0183a0009c0006t0003g0184a0066c0033t0003g0182 | 3 | 186 | 0.0161 | 983 | c.450 others(1000): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(976): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0231 | 1 | 308 | 0.0033 | 983 | c.*66 others(994): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471482 | T | TTATATAT others(976): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0247 | 2 | 260 | 0.0077 | 983 | c.125 others(1000): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 859408 | G | GTGTGAGT others(976): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 294 | 0.0034 | 983 | c.153 others(1002): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930023 | C | CCCCACTG others(976): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 264 | 0.0038 | 983 | c.180 others(1002): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(976): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18522.hp2 |
a0010 | a0010c0048a0010c0054 | a0010c0048t0002a0010c0054t0002 | a0010c0048t0002g0192a0010c0054t0002g0051 | 2 | 280 | 0.0071 | 983 | c.641 others(998): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(976): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0051 | 1 | 140 | 0.0071 | 983 | c.133 others(1002): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(976): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 394 | 0.0025 | 983 | c.-8+ others(996): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(976): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0246 | 1 | 324 | 0.0031 | 983 | c.140 others(1000): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(976): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0035 | 1 | 376 | 0.0027 | 983 | c.*15 others(994): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(976): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 308 | 0.0033 | 983 | c.371 others(1000): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(976): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0048 | a0048c0058 | a0048c0058t0001 | a0048c0058t0001g0144 | 1 | 308 | 0.0033 | 983 | c.371 others(1000): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
| PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTTCTC others(976): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 312 | 0.0032 | 983 | c.306 others(1002): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(976): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03654.hp2 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0001 | a0001c0001t0003g0061a0001c0001t0005g0122a0002c0002t0001g0192others(1): Show | 4 | 312 | 0.0128 | 983 | c.306 others(1002): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(976): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 67 | 0.0149 | 983 | c.159 others(1000): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
| RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(976): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0111 | 2 | 304 | 0.0066 | 983 | c.347 others(998): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(976): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100a0001c0001t0001g0199a0001c0001t0001g0249others(3): Show | 6 | 304 | 0.0197 | 983 | c.347 others(998): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(976): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0229 | 1 | 314 | 0.0032 | 983 | c.916 others(1000): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(976): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0040 | 1 | 324 | 0.0031 | 983 | c.115 others(1000): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SNRNP35_chr12_123453139_123471936 | 123453160 | A | AAATATAT others(976): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 186 | 0.0054 | 983 | c.-50 others(994): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
| TAOK3_chr12_118144801_118377907 | 118295133 | C | CGGGTTCA others(976): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282a0001c0001t0003g0283 | 2 | 314 | 0.0064 | 983 | c.-19 others(1004): Show |
TAOK3 | ENSG00000135090.14 | transcript | ENST00000392533.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(976): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 344 | 0.0029 | 983 | c.327 others(1000): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(976): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085a0001c0002t0001g0329 | 2 | 382 | 0.0052 | 983 | c.728 others(1000): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| TP73_chr1_3647516_3741201 | 3694671 | C | CGCAATCC others(976): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 358 | 0.0028 | 983 | c.186 others(1002): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |