| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(248): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(2): Show | 5 | 356 | 0.0140 | 255 | c.-24 others(272): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCT others(248): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01346.hp2 others(23): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0023a0003c0004others(4): Show | a0001c0001t0002a0001c0023t0002a0003c0004t0002others(5): Show | a0001c0001t0002g0215a0001c0023t0002g0228a0003c0004t0002g0217others(22): Show | 26 | 356 | 0.0730 | 255 | c.-24 others(272): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(248): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 170 | 0.0059 | 255 | c.86- others(268): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(248): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18951.hp2 NA18979.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0082a0001c0003t0001g0315a0003c0004t0001g0046others(2): Show | 5 | 384 | 0.0130 | 255 | c.215 others(272): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(248): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0127 | 2 | 384 | 0.0052 | 255 | c.215 others(272): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99927975 | G | GTGGTGGT others(248): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0246a0001c0003t0005g0247 | 2 | 288 | 0.0069 | 255 | c.190 others(274): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137327794 | A | ACCCATAT others(248): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0017 | a0017c0030 | a0017c0030t0001 | a0017c0030t0001g0015 | 1 | 82 | 0.0122 | 255 | c.199 others(274): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515574 | A | AGTCCTAG others(248): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 272 | 0.0037 | 255 | c.238 others(276): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515606 | C | CGTAATCA others(248): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0020a0001c0003t0003g0170 | 2 | 272 | 0.0074 | 255 | c.238 others(276): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515607 | G | GTAATCAT others(248): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0002 | a0001c0001t0002g0162a0001c0001t0002g0166a0001c0001t0002g0229others(2): Show | 5 | 272 | 0.0184 | 255 | c.238 others(276): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515691 | C | CGTAATCA others(248): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 272 | 0.0037 | 255 | c.238 others(276): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| FAM111B_chr11_59102237_59132412 | 59106681 | G | GCCGCCAG others(248): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 255 | c.-74 others(264): Show |
FAM111B | ENSG00000189057.11 | transcript | ENST00000343597.4 | protein_coding | 555 | chr11 | TogoVar | ||||||
| FAM171A1_chr10_15206643_15376289 | 15229810 | C | CCACCATC others(248): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0128a0001c0001t0001g0154a0001c0001t0001g0181others(4): Show | 7 | 303 | 0.0231 | 255 | c.755 others(272): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| FAM171A1_chr10_15206643_15376289 | 15229815 | A | ATCACCAT others(248): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 303 | 0.0033 | 255 | c.755 others(272): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(248): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195 | 1 | 218 | 0.0046 | 255 | c.-23 others(274): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(248): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0212 | 1 | 218 | 0.0046 | 255 | c.-23 others(274): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FGFR4_chr5_177081915_177103144 | 177097100 | C | CTCCTCCT others(248): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0074 | 1 | 372 | 0.0027 | 255 | c.215 others(272): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(248): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 174 | 0.0058 | 255 | c.193 others(274): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FOXJ3_chr1_42171548_42340235 | 42222007 | G | GAGGAGGA others(248): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 332 | 0.0030 | 255 | c.528 others(272): Show |
FOXJ3 | ENSG00000198815.9 | transcript | ENST00000361346.6 | protein_coding | 5/12 | chr1 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(248): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0078 | 1 | 96 | 0.0104 | 255 | c.-72 others(274): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46145756 | C | CTTCCCCC others(248): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0155 | 1 | 230 | 0.0044 | 255 | c.109 others(270): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46145756 | C | CTTCCCCC others(248): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 230 | 0.0044 | 255 | c.109 others(270): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | ||||||
| FYN_chr6_111655332_111878452 | 111773616 | G | GAGAGGGG others(248): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228 | 1 | 234 | 0.0043 | 255 | c.-12 others(272): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77252998 | C | CCACCACC others(248): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0061 | 1 | 366 | 0.0027 | 255 | c.666 others(272): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GAS6_chr13_113815549_113869076 | 113824036 | T | TGGTCTGG others(248): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0011 | 1 | 143 | 0.0070 | 255 | c.147 others(272): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113824036 | T | TGGTCTGG others(248): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01258.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0002c0005others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0026a0001c0002t0001g0134a0001c0002t0001g0135others(10): Show | 14 | 143 | 0.0979 | 255 | c.147 others(272): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113824036 | T | TGGTCTGG others(248): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 143 | 0.0070 | 255 | c.147 others(272): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308455 | C | CCACCACC others(248): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0017 | 2 | 422 | 0.0047 | 255 | c.962 others(272): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GPR157_chr1_9095305_9134102 | 9116233 | A | AATTATAT others(248): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0362 | 1 | 404 | 0.0025 | 255 | c.384 others(272): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| GPR157_chr1_9095305_9134102 | 9116281 | A | AATTATAT others(248): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18942.hp1 NA19005.hp1 others(1): Show |
a0003a0006 | a0003c0003a0006c0013 | a0003c0003t0004a0003c0003t0036a0006c0013t0004 | a0003c0003t0004g0335a0003c0003t0004g0366a0003c0003t0036g0339others(1): Show | 4 | 404 | 0.0099 | 255 | c.384 others(272): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(248): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0015 | a0015c0024 | a0015c0024t0003 | a0015c0024t0003g0051 | 1 | 268 | 0.0037 | 255 | c.-28 others(266): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(248): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp1 others(65): Show |
a0001a0005a0016 | a0001c0001a0005c0004a0016c0020 | a0001c0001t0001a0001c0001t0010a0005c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(63): Show | 68 | 268 | 0.2537 | 255 | c.-28 others(266): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106710081 | A | ATGTATAT others(248): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0005 | 1 | 256 | 0.0039 | 255 | c.183 others(274): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571143 | C | CGGTGGGC others(248): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(94): Show |
a0002a0005a0011others(13): Show | a0002c0002a0002c0005a0002c0015others(24): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0007others(51): Show | a0002c0002t0005g0006a0002c0002t0005g0032a0002c0002t0005g0279others(82): Show | 97 | 390 | 0.2487 | 255 | c.279 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571143 | C | CGGTGGGC others(248): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0346 | 1 | 390 | 0.0026 | 255 | c.279 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571246 | G | GGTGGGCT others(248): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0338 | 1 | 390 | 0.0026 | 255 | c.279 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571280 | C | CCTCTGGC others(248): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0270 | 1 | 390 | 0.0026 | 255 | c.279 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571483 | G | GCCTCTGG others(248): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0112 | 1 | 390 | 0.0026 | 255 | c.279 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571726 | A | AAGCTCCT others(248): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0235 | 1 | 390 | 0.0026 | 255 | c.278 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571772 | G | GCTCCAAG others(248): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(95): Show |
a0002a0005a0011others(13): Show | a0002c0002a0002c0005a0002c0015others(24): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0007others(49): Show | a0002c0002t0005g0006a0002c0002t0005g0032a0002c0002t0005g0270others(83): Show | 98 | 390 | 0.2513 | 255 | c.278 others(270): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HS3ST2_chr16_22809162_22921338 | 22818800 | C | CCTTCCTT others(248): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022 | 1 | 350 | 0.0029 | 255 | c.485 others(272): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HSF1_chr8_144286604_144319720 | 144313788 | G | GCGCCGCC others(248): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 330 | 0.0030 | 255 | c.124 others(270): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322434 | A | ACATGGAA others(248): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 323 | 0.0031 | 255 | c.-26 others(266): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2535 | chr21 | TogoVar | ||||||
| JPH2_chr20_44101590_44192188 | 44134467 | T | TATAAATA others(248): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 338 | 0.0030 | 255 | c.117 others(276): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
| KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAATAA others(248): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 296 | 0.0034 | 255 | c.163 others(272): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(248): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01099.hp2 others(35): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0019a0003c0004others(16): Show | a0001c0001t0004a0001c0001t0022a0001c0001t0056others(31): Show | a0001c0001t0004g0165a0001c0001t0022g0189a0001c0001t0056g0184others(35): Show | 38 | 204 | 0.1863 | 255 | c.188 others(270): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(248): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0200 | 1 | 204 | 0.0049 | 255 | c.188 others(270): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(248): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(54): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0003others(22): Show | a0001c0001t0006a0001c0001t0013a0002c0002t0002others(48): Show | a0001c0001t0006g0052a0001c0001t0013g0007a0002c0002t0002g0049others(53): Show | 57 | 204 | 0.2794 | 255 | c.188 others(270): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(248): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0155 | 1 | 204 | 0.0049 | 255 | c.188 others(270): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(248): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0010 | a0010c0029 | a0010c0029t0050 | a0010c0029t0050g0193 | 1 | 204 | 0.0049 | 255 | c.188 others(270): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar |