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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSE1L_chr20_49041312_49101949 | 49098322 | TTTGTTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03453.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0170a0001c0001t0001g0186a0001c0001t0002g0224others(3): Show | 6 | 386 | 0.0155 | -12 | c.*18 others(23): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1374 | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49100467 | CTTTATTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(79): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0108a0001c0001t0001g0135a0001c0001t0001g0193others(78): Show | 82 | 386 | 0.2124 | -12 | c.*40 others(23): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3519 | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150076321 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(100): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0366others(97): Show | 103 | 406 | 0.2537 | -12 | c.889 others(27): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084382 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0157 | 1 | 406 | 0.0025 | -12 | c.49+ others(27): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084386 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp2 NA18955.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0261a0001c0002t0001g0168a0001c0002t0001g0169 | 3 | 406 | 0.0074 | -12 | c.49+ others(27): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp1 NA18945.hp2 |
a0001 | a0001c0004a0001c0020 | a0001c0004t0001a0001c0020t0002 | a0001c0004t0001g0264a0001c0020t0002g0226 | 2 | 406 | 0.0049 | -12 | c.49+ others(27): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1_chr1_109905849_109935992 | 109919927 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01099.hp1 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0011a0002c0002others(6): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(13): Show | a0001c0004t0001g0008a0001c0004t0001g0037a0001c0004t0001g0045others(27): Show | 46 | 434 | 0.1060 | -12 | c.397 others(29): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1284195 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 159 | 0.0063 | -12 | c.76+ others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285701 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0121a0001c0001t0002g0100a0001c0001t0003g0024others(1): Show | 4 | 159 | 0.0252 | -12 | c.77- others(23): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285720 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18960.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0085a0001c0001t0004g0094 | 2 | 159 | 0.0126 | -12 | c.77- others(23): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1301327 | GTCTCAAA others(5): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0106 | 1 | 159 | 0.0063 | -12 | c.946 others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 10/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1301331 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0035 | 1 | 159 | 0.0063 | -12 | c.946 others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RB_chr22_36908628_36945439 | 36912881 | CTCATTCA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0118 | 1 | 360 | 0.0028 | -12 | c.-96 others(21): Show |
CSF2RB | ENSG00000100368.15 | transcript | ENST00000403662.8 | protein_coding | 746 | chr22 | TogoVar | ||||||
CSF2RB_chr22_36908628_36945439 | 36943743 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0003 | a0001c0003t0001g0031a0001c0003t0001g0171a0002c0006t0003g0006others(1): Show | 6 | 360 | 0.0167 | -12 | c.*52 others(23): Show |
CSF2RB | ENSG00000100368.15 | transcript | ENST00000403662.8 | protein_coding | 3305 | chr22 | TogoVar | ||||||
CSF3R_chr1_36461043_36487913 | 36471922 | TAGGCACA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0035 | 2 | 420 | 0.0048 | -12 | c.107 others(29): Show |
CSF3R | ENSG00000119535.20 | transcript | ENST00000373106.6 | protein_coding | 9/16 | chr1 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19407905 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | NA18993.hp1 NA19056.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0023a0001c0002t0008g0022a0001c0002t0008g0143 | 3 | 238 | 0.0126 | -12 | c.130 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19428825 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp1 others(15): Show |
a0001a0003a0013 | a0001c0002a0001c0007a0003c0005others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(6): Show | a0001c0002t0002g0008a0001c0002t0002g0046a0001c0002t0002g0084others(15): Show | 18 | 238 | 0.0756 | -12 | c.954 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19450282 | GGGAGGAG others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0047 | 1 | 238 | 0.0042 | -12 | c.851 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19460098 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(9): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0005a0002c0003t0007a0002c0003t0020others(1): Show | a0002c0003t0005g0018a0002c0003t0005g0043a0002c0003t0005g0100others(9): Show | 12 | 238 | 0.0504 | -12 | c.635 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19488370 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(12): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0053a0001c0001t0001g0201a0001c0001t0002g0223others(12): Show | 15 | 238 | 0.0630 | -12 | c.634 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19493871 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(35): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0005g0187a0001c0002t0001g0115a0001c0002t0002g0008others(35): Show | 38 | 238 | 0.1597 | -12 | c.634 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0013 | a0014c0013t0004 | a0014c0013t0004g0220 | 1 | 238 | 0.0042 | -12 | c.-29 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19525615 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 NA19030.hp1 |
a0001a0014 | a0001c0002a0014c0013 | a0001c0002t0002a0014c0013t0004 | a0001c0002t0002g0067a0014c0013t0004g0220 | 2 | 238 | 0.0084 | -12 | c.-29 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19530305 | TACACATA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01070.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0004others(10): Show | a0001c0001t0001g0053a0001c0001t0010g0231a0001c0002t0004g0095others(23): Show | 26 | 238 | 0.1092 | -12 | c.-29 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19542200 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02965.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0003a0001c0002t0016a0001c0017t0023 | a0001c0002t0003g0098a0001c0002t0016g0049a0001c0002t0016g0162others(1): Show | 4 | 238 | 0.0168 | -12 | c.-29 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0040a0001c0002t0002g0067 | 2 | 238 | 0.0084 | -12 | c.-29 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19603047 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01243.hp2 others(16): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0004others(2): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0012others(10): Show | a0001c0002t0005g0050a0001c0002t0005g0073a0001c0002t0006g0017others(16): Show | 19 | 238 | 0.0798 | -12 | c.-39 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19618649 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19630194 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0044 | a0001c0001t0002g0217a0001c0002t0002g0009a0001c0002t0002g0010others(1): Show | 4 | 238 | 0.0168 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0133 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19657239 | TGATAAAC others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01978.hp1 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0033a0001c0002t0005others(7): Show | a0001c0001t0001g0167a0001c0001t0033g0044a0001c0002t0005g0080others(7): Show | 10 | 238 | 0.0420 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666760 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0045a0001c0002t0007g0189 | 2 | 238 | 0.0084 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666827 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0128 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666831 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0117 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666943 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 NA18971.hp1 NA20905.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003others(1): Show | a0001c0002t0002a0001c0010t0018a0002c0003t0028others(1): Show | a0001c0002t0002g0027a0001c0010t0018g0191a0002c0003t0028g0111others(1): Show | 4 | 238 | 0.0168 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667008 | AAAGAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0118 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667016 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0047 | 1 | 238 | 0.0042 | -12 | c.-39 others(33): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43145410 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 398 | 0.0025 | -12 | c.-25 others(31): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CSGALNACT2_chr10_43133445_43190302 | 43146980 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(49): Show | 68 | 398 | 0.1709 | -12 | c.-25 others(31): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43168673 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 398 | 0.0025 | -12 | c.125 others(31): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CSH1_chr17_63889918_63901574 | 63898136 | TTCTTTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | -12 | c.-16 others(23): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1563 | chr17 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63898140 | TTCTTTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -12 | c.-16 others(23): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1567 | chr17 | TogoVar | ||||||
CSH2_chr17_63867016_63878677 | 63875552 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01175.hp1 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010 | 14 | 410 | 0.0342 | -12 | c.-19 others(23): Show |
CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 1876 | chr17 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63912753 | GTTTCTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(6): Show | 42 | 438 | 0.0959 | -12 | c.-15 others(23): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1496 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2960939 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG01123.hp1 others(22): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0040others(21): Show | a0001c0001t0039a0001c0003t0013a0001c0003t0019others(22): Show | a0001c0001t0039g0017a0001c0003t0013g0026a0001c0003t0019g0107others(22): Show | 25 | 126 | 0.1984 | -12 | c.970 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 62/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 2960955 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02615.hp1 |
a0026a0032 | a0026c0082a0032c0011 | a0026c0082t0052a0032c0011t0065 | a0026c0082t0052g0097a0032c0011t0065g0101 | 2 | 126 | 0.0159 | -12 | c.970 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 62/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3017806 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0031 | a0002c0031t0015 | a0002c0031t0015g0001 | 1 | 126 | 0.0079 | -12 | c.802 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 52/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3039526 | GTTCCTTC others(5): Show |
G | intron_variant | MODIFIER | NA18971.hp2 | a0023 | a0023c0095 | a0023c0095t0002 | a0023c0095t0002g0124 | 1 | 126 | 0.0079 | -12 | c.766 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 50/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3119384 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03098.hp2 HG03139.hp1 others(2): Show |
a0001a0002a0011others(2): Show | a0001c0025a0002c0074a0011c0110others(2): Show | a0001c0025t0003a0002c0074t0041a0011c0110t0074others(2): Show | a0001c0025t0003g0077a0002c0074t0041g0031a0011c0110t0074g0082others(2): Show | 5 | 126 | 0.0397 | -12 | c.624 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 41/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3175483 | TCCTGCCT others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 |
a0002a0015 | a0002c0070a0015c0062 | a0002c0070t0046a0015c0062t0056 | a0002c0070t0046g0092a0015c0062t0056g0062 | 2 | 126 | 0.0159 | -12 | c.572 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 37/69 | chr8 | TogoVar |