view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0146 | a0001c0001t0146g0047 | 1 | 224 | 0.0045 | 94 | c.115 others(115): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0044 | 1 | 224 | 0.0045 | 94 | c.115 others(115): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0076 | 1 | 224 | 0.0045 | 94 | c.115 others(115): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101366892 | A | ATATAAAT others(87): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002 a0001c0002t0008g0003 |
2 | 266 | 0.0075 | 94 | c.48+ others(111): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(87): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0017 | 1 | 218 | 0.0046 | 94 | c.314 others(113): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39714081 | A | ATATGTAC others(87): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG02004.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0028 others(8): Show |
12 | 360 | 0.0333 | 94 | c.141 others(113): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39714081 | A | ATATGTAC others(87): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 360 | 0.0028 | 94 | c.141 others(113): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113974168 | T | TGCAGGCC others(87): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0243 | 1 | 414 | 0.0024 | 94 | c.-17 others(103): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 93 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113974180 | C | CTGGGGCG others(87): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039a0001c0001t0108others(2): Show | a0001c0001t0002g0004 a0001c0001t0039g0051 a0001c0001t0108g0175 others(2): Show |
9 | 414 | 0.0217 | 94 | c.-18 others(103): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 105 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113974274 | T | TTGGGGCG others(87): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0026 a0001c0001t0017g0027 a0001c0001t0017g0233 |
6 | 414 | 0.0145 | 94 | c.-27 others(103): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 199 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113974368 | T | TTGGGGCG others(87): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0165 | 1 | 414 | 0.0024 | 94 | c.-37 others(103): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 293 | chr13 | TogoVar | |||||||
C1RL_chr12_7089554_7114214 | 7101128 | T | TCCCTCCC others(87): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 438 | 0.0023 | 94 | c.490 others(109): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
C1RL_chr12_7089554_7114214 | 7101128 | T | TCTTTCCC others(87): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0105 a0001c0001t0023g0209 |
2 | 438 | 0.0046 | 94 | c.490 others(109): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
C1RL_chr12_7089554_7114214 | 7101128 | T | TCTTTCCC others(87): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0012 | a0001c0001t0005g0106 a0002c0002t0012g0097 |
2 | 438 | 0.0046 | 94 | c.490 others(109): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184410626 | T | TATATTAT others(87): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0208 | 1 | 232 | 0.0043 | 94 | c.-12 others(115): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf87_chr1_59985394_60078770 | 60065003 | T | TAAATATA others(87): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0001c0011others(5): Show | a0001c0001t0001a0001c0009t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0001t0001g0094 others(51): Show |
58 | 382 | 0.1518 | 94 | c.107 others(111): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74139959 | G | GAGGATTG others(87): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0005 | 1 | 318 | 0.0031 | 94 | c.484 others(109): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404367 | C | CCCTGAGG others(87): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 2 | 322 | 0.0062 | 94 | c.*27 others(105): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1077 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404993 | G | GGGGGGAA others(87): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 322 | 0.0031 | 94 | c.*21 others(105): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 451 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404997 | G | GGACGGGG others(87): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0008 | 1 | 322 | 0.0031 | 94 | c.*20 others(105): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 447 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129019 | C | CGTCACCC others(87): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 326 | 0.0031 | 94 | c.-1- others(109): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39601892 | A | ACCCTCCC others(87): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0005 | a0003c0005t0053 | a0003c0005t0053g0142 | 1 | 236 | 0.0042 | 94 | c.482 others(111): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55033830 | A | ATATAATA others(87): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG01258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0089 others(13): Show |
16 | 118 | 0.1356 | 94 | c.298 others(115): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1921504 | T | TACCTGGC others(87): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(73): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0266 a0001c0001t0001g0312 a0001c0001t0002g0032 others(73): Show |
76 | 318 | 0.2390 | 94 | c.-30 others(105): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 2853 | chr12 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85212824 | T | TTCCTTCT others(87): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 146 | 0.0069 | 94 | c.61+ others(113): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85212832 | T | TTCTTTCT others(87): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 146 | 0.0069 | 94 | c.61+ others(113): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705957 | T | TAATATAT others(87): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01952.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0002g0020 a0001c0001t0002g0064 others(8): Show |
11 | 126 | 0.0873 | 94 | c.453 others(113): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133334560 | G | GGAAGGAC others(87): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0166 | 1 | 250 | 0.0040 | 94 | c.-21 others(111): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816821 | C | CACACACG others(87): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 366 | 0.0027 | 94 | c.645 others(111): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816899 | C | CACACACG others(87): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0062 |
2 | 366 | 0.0055 | 94 | c.645 others(111): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(87): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0339 | 1 | 460 | 0.0022 | 94 | c.193 others(111): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181715 | A | ACATACAC others(87): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0331 | 1 | 460 | 0.0022 | 94 | c.193 others(111): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459268 | T | TTCTTTCT others(87): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0144 | 1 | 186 | 0.0054 | 94 | c.615 others(111): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110677368 | A | ACAATCAC others(87): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00738.hp2 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0004others(4): Show | a0001c0001t0002a0001c0003t0002a0002c0004t0001others(7): Show | a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 others(59): Show |
63 | 372 | 0.1694 | 94 | c.656 others(109): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32830121 | G | GATATATA others(87): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251 | 1 | 368 | 0.0027 | 94 | c.326 others(113): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATGC others(87): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017 | a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0011g0099 others(1): Show |
4 | 316 | 0.0127 | 94 | c.273 others(111): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATGT others(87): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0013 | a0013c0018 | a0013c0018t0033 | a0013c0018t0033g0201 | 1 | 316 | 0.0032 | 94 | c.273 others(111): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCNB1_chr5_69162150_69183245 | 69176012 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 420 | 0.0024 | 94 | c.108 others(111): Show |
CCNB1 | ENSG00000134057.15 | transcript | ENST00000256442.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CD163L1_chr12_7349960_7449153 | 7421057 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 384 | 0.0026 | 94 | c.766 others(113): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
CD36_chr7_80633642_80684274 | 80683138 | A | ATATATGT others(87): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0023 | 2 | 392 | 0.0051 | 94 | c.*67 others(105): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 3865 | chr7 | TogoVar | |||||||
CD37_chr19_49330406_49345606 | 49340798 | C | CCAGGGCC others(87): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 382 | 0.0026 | 94 | c.*47 others(103): Show |
CD37 | ENSG00000104894.12 | transcript | ENST00000323906.9 | protein_coding | 193 | chr19 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61383264 | G | GATATATG others(87): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0064 | 1 | 106 | 0.0094 | 94 | c.169 others(115): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960121 | G | GTGTGTGT others(87): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0076 | a0001c0001t0045g0088 a0001c0002t0076g0124 |
2 | 168 | 0.0119 | 94 | c.253 others(113): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18991.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0168 a0002c0002t0002g0053 |
2 | 238 | 0.0084 | 94 | c.544 others(111): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541686 | C | CGAAAGAA others(87): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0124 | 1 | 340 | 0.0029 | 94 | c.-15 others(115): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103113151 | A | AGTGTATA others(87): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00741.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0044 others(6): Show |
9 | 320 | 0.0281 | 94 | c.754 others(113): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881982 | A | ATATATAG others(87): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0086 | 1 | 440 | 0.0023 | 94 | c.*11 others(105): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 296 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882090 | A | ATAGATAC others(87): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0267 | 1 | 440 | 0.0023 | 94 | c.*10 others(105): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 188 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882133 | G | GATACATC others(87): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0281 | 1 | 440 | 0.0023 | 94 | c.*10 others(105): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 145 | chr13 | TogoVar | |||||||
CENPQ_chr6_49458370_49498107 | 49487168 | A | AAAAGATG others(87): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18988.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0114 a0001c0001t0004g0028 |
3 | 362 | 0.0083 | 94 | c.478 others(111): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |