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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAT3_chr11_92219818_92901473 | 92705631 | T | TGGTGTGA others(1702): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02818.hp2 others(2): Show |
a0001a0007a0038 | a0001c0006a0001c0084a0007c0078others(2): Show | a0001c0006t0068a0001c0084t0013a0007c0078t0002others(2): Show | a0001c0006t0068g0021 a0001c0084t0013g0108 a0007c0078t0002g0065 others(2): Show |
5 | 114 | 0.0439 | 1709 | c.366 others(1728): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CAGTGGGG others(1702): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 271 | 0.0037 | 1709 | c.157 others(1726): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218360 | C | CACCACCC others(1702): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 2 | 0.5000 | 1709 | c.*28 others(1720): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1191 | chr8 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(1702): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0206 | 1 | 237 | 0.0042 | 1709 | c.140 others(1726): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGAGC others(1702): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0038 | 1 | 126 | 0.0079 | 1709 | c.126 others(1728): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(1702): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0046 | 1 | 71 | 0.0141 | 1709 | c.-39 others(1720): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1702): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 217 | 0.0046 | 1709 | c.-93 others(1726): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1702): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 21 | 0.0476 | 1709 | c.127 others(1726): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1703): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 259 | 0.0039 | 1710 | c.-50 others(1727): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231395 | G | GGGGTGGA others(1703): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 230 | 0.0043 | 1710 | c.-36 others(1721): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3501 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(1703): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA19067.hp2 NA19072.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 3 | 148 | 0.0203 | 1710 | c.-36 others(1721): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1703): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 127 | 0.0079 | 1710 | c.-95 others(1729): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC31_chr3_169834172_169874935 | 169844933 | A | AAAAAAAA others(1703): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 320 | 0.0031 | 1710 | c.132 others(1729): Show |
LRRC31 | ENSG00000114248.10 | transcript | ENST00000316428.10 | protein_coding | 8/8 | chr3 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877315 | G | GGGAGGTT others(1703): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0014 | 1 | 221 | 0.0045 | 1710 | c.224 others(1729): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877322 | T | TAGGGAGG others(1703): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0123 | 1 | 249 | 0.0040 | 1710 | c.224 others(1729): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398328 | G | GGTAGATC others(1703): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 349 | 0.0029 | 1710 | c.*46 others(1721): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4603 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398353 | T | TTTTCAGG others(1703): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 328 | 0.0030 | 1710 | c.*45 others(1721): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4578 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398353 | T | TTTTCAGG others(1703): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 328 | 0.0030 | 1710 | c.*45 others(1721): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4578 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1703): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 135 | 0.0074 | 1710 | c.*31 others(1721): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | AATAGTAT others(1703): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 313 | 0.0064 | 1710 | c.-15 others(1721): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398410 | G | GTACCCCC others(1703): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0024 | 1 | 168 | 0.0060 | 1710 | c.106 others(1727): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 221760 | A | ACAGCTCT others(1703): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18951.hp1 NA18963.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0021a0001c0001t0033a0001c0004t0004others(1): Show | a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0004t0004g0014 others(1): Show |
4 | 132 | 0.0303 | 1710 | c.614 others(1727): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(1703): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0073 | a0001c0073t0002 | a0001c0073t0002g0069 | 1 | 152 | 0.0066 | 1710 | c.655 others(1727): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744847 | T | TCCTGGCT others(1703): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0054 | a0001c0054t0034 | a0001c0054t0034g0054 | 1 | 122 | 0.0082 | 1710 | c.655 others(1727): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1703): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 18 | 0.0556 | 1710 | c.-28 others(1729): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(1703): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0003 | 2 | 305 | 0.0066 | 1710 | c.101 others(1727): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1703): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 315 | 0.0032 | 1710 | c.115 others(1727): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414462 | G | GGAAGGCA others(1703): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 334 | 0.0030 | 1710 | c.115 others(1727): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072200 | A | ATGTGCTT others(1703): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0125 | 1 | 38 | 0.0263 | 1710 | c.532 others(1731): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(1703): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 4 | 0.2500 | 1710 | c.261 others(1729): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1703): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0186 | 1 | 277 | 0.0036 | 1710 | c.*40 others(1727): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1703): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0184 a0001c0001t0016g0185 |
2 | 278 | 0.0072 | 1710 | c.*40 others(1727): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98309952 | T | TGATTCTC others(1704): Show |
intron_variant | MODIFIER | HG02615.hp2 NA21309.hp1 |
a0001 | a0001c0005 | a0001c0005t0011a0001c0005t0020 | a0001c0005t0011g0091 a0001c0005t0020g0090 |
2 | 289 | 0.0069 | 1711 | c.955 others(1726): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98309952 | T | TGATTCTC others(1704): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0089 | 1 | 288 | 0.0035 | 1711 | c.955 others(1726): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1704): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 a0001c0001t0003g0060 |
2 | 260 | 0.0077 | 1711 | c.-50 others(1728): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1704): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0250 | 1 | 13 | 0.0769 | 1711 | c.109 others(1730): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1704): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 1711 | c.*31 others(1722): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(1704): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18973.hp1 NA18983.hp2 others(1): Show |
a0002a0004a0022 | a0002c0001a0004c0011a0022c0056 | a0002c0001t0006a0004c0011t0006a0022c0056t0014 | a0002c0001t0006g0099 a0004c0011t0006g0095 a0004c0011t0006g0130 others(1): Show |
4 | 271 | 0.0148 | 1711 | c.258 others(1728): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1704): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0031 | 1 | 210 | 0.0048 | 1711 | c.292 others(1730): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1704): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0134 | 1 | 192 | 0.0052 | 1711 | c.292 others(1730): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1704): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0043 | 1 | 192 | 0.0052 | 1711 | c.292 others(1730): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1704): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 92 | 0.0109 | 1711 | c.124 others(1730): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1704): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19065.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0056 a0002c0003t0004g0057 |
2 | 93 | 0.0215 | 1711 | c.124 others(1730): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1704): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0037 | 1 | 92 | 0.0109 | 1711 | c.124 others(1730): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1704): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 18 | 0.0556 | 1711 | c.-28 others(1730): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGAGAAGG others(1704): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 295 | 0.0034 | 1711 | c.115 others(1728): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGGGGGGG others(1704): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 135 | 0.0074 | 1711 | c.531 others(1728): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1705): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 259 | 0.0039 | 1712 | c.-50 others(1729): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1705): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp1 HG02922.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0003a0007c0013t0003 | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 others(4): Show |
7 | 265 | 0.0264 | 1712 | c.-50 others(1729): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1705): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18955.hp1 NA18974.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0042 a0001c0001t0003g0043 others(6): Show |
10 | 268 | 0.0373 | 1712 | c.-50 others(1729): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |