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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02155.hp2 NA18970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0023a0002c0002others(1): Show | a0001c0001t0001a0001c0023t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0203 a0001c0001t0001g0204 others(4): Show |
7 | 95 | 0.0737 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0339 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02273.hp1 HG02647.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0120 a0001c0001t0001g0257 others(5): Show |
8 | 96 | 0.0833 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0296 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(1880): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0026 | 1 | 277 | 0.0036 | 1887 | c.-23 others(1898): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1880): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0042 | 1 | 108 | 0.0093 | 1887 | c.-23 others(1898): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138017897 | T | TCAGGTGC others(1880): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0023 | a0004c0023t0008 | a0004c0023t0008g0077 | 1 | 95 | 0.0105 | 1887 | c.226 others(1906): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1880): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0073 | 1 | 13 | 0.0769 | 1887 | c.354 others(1906): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1880): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 73 | 0.0137 | 1887 | c.-56 others(1906): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1880): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0230 a0001c0001t0001g0239 |
3 | 75 | 0.0400 | 1887 | c.-56 others(1906): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1880): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0130 | 1 | 73 | 0.0137 | 1887 | c.-56 others(1906): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(1880): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 207 | 0.0048 | 1887 | c.724 others(1906): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261821 | T | TGTGCTCC others(1880): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 256 | 0.0039 | 1887 | c.571 others(1904): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344551 | C | CGTGAGAG others(1880): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0002t0005a0001c0007t0004 | a0001c0002t0004g0175 a0001c0002t0005g0277 a0001c0002t0005g0278 others(2): Show |
5 | 237 | 0.0211 | 1887 | c.*70 others(1898): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4957 | chr16 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1880): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0157 | 1 | 15 | 0.0667 | 1887 | c.-5+ others(1900): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(1880): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 | 1 | 17 | 0.0588 | 1887 | c.*11 others(1908): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393252 | T | TCTCTCTC others(1880): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0143 | 1 | 151 | 0.0066 | 1887 | c.107 others(1906): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841638 | A | ACCCTGAC others(1880): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0164 | 1 | 176 | 0.0057 | 1887 | c.361 others(1906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344551 | C | CGTGAGAG others(1880): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0239 a0001c0001t0001g0240 others(3): Show |
11 | 227 | 0.0485 | 1887 | c.4-1 others(1900): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347208 | A | ACAGAGAT others(1880): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0003 a0001c0004t0010g0005 |
2 | 196 | 0.0102 | 1887 | c.204 others(1908): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1880): Show |
stop_gained others(1): Show |
HIGH | HG01243.hp1 HG02717.hp1 NA18522.hp2 |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0019 | 3 | 365 | 0.0082 | 1887 | c.435 others(1894): Show |
p.His others(1900): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1880): Show |
stop_gained others(1): Show |
HIGH | HG02970.hp1 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0066 | 1 | 363 | 0.0028 | 1887 | c.435 others(1894): Show |
p.His others(1900): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ANKRD36_chr2_97108153_97269521 | 97187586 | A | ATGATCTT others(1881): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp2 HG03834.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0181 a0004c0009t0002g0182 a0004c0009t0002g0183 others(2): Show |
5 | 210 | 0.0238 | 1888 | c.214 others(1905): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 32/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(1881): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0183 | 1 | 23 | 0.0435 | 1888 | c.137 others(1905): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964985 | G | GTGGAAAG others(1881): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0260 | 1 | 247 | 0.0040 | 1888 | c.137 others(1905): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(1881): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 165 | 0.0061 | 1888 | c.654 others(1907): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1881): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0336 | 1 | 89 | 0.0112 | 1888 | c.128 others(1903): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1881): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0113 | 1 | 89 | 0.0112 | 1888 | c.128 others(1903): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1881): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0007 | a0007c0013 | a0007c0013t0009 | a0007c0013t0009g0350 | 1 | 89 | 0.0112 | 1888 | c.128 others(1903): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209281 | T | TTTCCTTC others(1881): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0030 | 1 | 135 | 0.0074 | 1888 | c.244 others(1907): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1881): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001a0011 | a0001c0008a0001c0025a0001c0046others(1): Show | a0001c0008t0005a0001c0008t0024a0001c0025t0034others(2): Show | a0001c0008t0005g0026 a0001c0008t0005g0102 a0001c0008t0005g0166 others(8): Show |
11 | 83 | 0.1325 | 1888 | c.-56 others(1907): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1881): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0289 | 1 | 73 | 0.0137 | 1888 | c.-56 others(1907): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725478 | A | AGAGGAAG others(1881): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 277 | 0.0036 | 1888 | c.340 others(1905): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1881): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02572.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 3 | 17 | 0.1765 | 1888 | c.-5+ others(1901): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1881): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 207 | 0.0048 | 1888 | c.624 others(1905): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953511 | A | ACACCCAC others(1881): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0012 | a0001c0012t0018 | a0001c0012t0018g0035 | 1 | 227 | 0.0044 | 1888 | c.503 others(1903): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1881): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0064 a0001c0002t0004g0022 |
2 | 49 | 0.0408 | 1888 | c.107 others(1907): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1881): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 48 | 0.0208 | 1888 | c.107 others(1907): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1881): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0142 | 1 | 138 | 0.0072 | 1888 | c.107 others(1907): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393250 | T | TCTCTCTC others(1881): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp1 HG02300.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0013 | a0001c0002t0001g0082 a0001c0002t0001g0094 a0001c0002t0002g0101 others(1): Show |
4 | 145 | 0.0276 | 1888 | c.107 others(1907): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1881): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0353 | 1 | 326 | 0.0031 | 1888 | c.119 others(1905): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82361430 | G | GTTCCCTC others(1881): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 374 | 0.0027 | 1888 | c.-27 others(1905): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1882): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03516.hp1 |
a0001a0004a0011 | a0001c0004a0004c0007a0011c0020 | a0001c0004t0009a0004c0007t0011a0011c0020t0005 | a0001c0004t0009g0012 a0004c0007t0011g0011 a0011c0020t0005g0031 |
3 | 91 | 0.0330 | 1889 | c.128 others(1904): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803088 | C | CCCAGGGC others(1882): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0026 | a0026c0025 | a0026c0025t0001 | a0026c0025t0001g0056 | 1 | 349 | 0.0029 | 1889 | c.666 others(1904): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1882): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 218 | 0.0046 | 1889 | c.666 others(1904): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGGCC others(1882): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 147 | 0.0068 | 1889 | c.666 others(1904): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1882): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0268 | 1 | 73 | 0.0137 | 1889 | c.-56 others(1908): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |