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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST11_chr12_104451948_104767014 | 104750428 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01433.hp2 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0002g0231 others(8): Show |
11 | 82 | 0.1341 | 13 | c.205 others(30): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104756532 | G | GGGTGTGT others(6): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0099 | 1 | 55 | 0.0182 | 13 | c.205 others(28): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104756562 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 237 | 0.0042 | 13 | c.205 others(28): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2425691 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18947.hp1 |
a0007 | a0007c0008 | a0007c0008t0272a0007c0008t0274 | a0007c0008t0272g0269 a0007c0008t0274g0268 |
2 | 313 | 0.0064 | 13 | c.-77 others(30): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0275 | 1 | 37 | 0.0270 | 13 | c.-77 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0116 | 1 | 15 | 0.0667 | 13 | c.*72 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2452665 | T | TCCTCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02559.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0134a0001c0001t0214a0001c0001t0250others(3): Show | a0001c0001t0134g0179 a0001c0001t0214g0098 a0001c0001t0250g0095 others(3): Show |
6 | 342 | 0.0175 | 13 | c.*18 others(26): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4182 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452693 | C | CTCTCTCC others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(200): Show | a0001c0001t0003g0002 a0001c0001t0003g0128 a0001c0001t0003g0137 others(229): Show |
238 | 322 | 0.7391 | 13 | c.*18 others(26): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4210 | chr7 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02132.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0003g0032 a0001c0001t0003g0117 others(1): Show |
4 | 282 | 0.0142 | 13 | c.547 others(28): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST3_chr10_71959395_72018558 | 72017812 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0015a0002c0002t0017 | a0001c0001t0003g0265 a0001c0001t0015g0165 a0002c0002t0017g0110 |
3 | 133 | 0.0226 | 13 | c.*93 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 4255 | chr10 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 106 | 0.0094 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 a0001c0001t0015g0075 |
2 | 107 | 0.0187 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02683.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0001t0026a0001c0005t0030 | a0001c0001t0007g0064 a0001c0001t0026g0069 a0001c0005t0030g0033 |
3 | 108 | 0.0278 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0031 | 1 | 106 | 0.0094 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75496281 | G | GGAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0002g0265 a0001c0001t0005g0275 a0001c0001t0011g0277 others(7): Show |
10 | 356 | 0.0281 | 13 | c.-14 others(24): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 841 | chr16 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33695821 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 143 | 0.0070 | 13 | c.130 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757461 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 246 | 0.0041 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757469 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 240 | 0.0042 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757477 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 228 | 0.0044 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GGAAGGAG others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 181 | 0.0055 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27141591 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0212 | 1 | 70 | 0.0143 | 13 | c.121 others(30): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101239714 | T | TACGTTTC others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00609.hp1 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0008a0001c0001t0017a0001c0001t0018others(37): Show | a0001c0001t0008g0046 a0001c0001t0017g0367 a0001c0001t0017g0369 others(110): Show |
117 | 416 | 0.2813 | 13 | c.321 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101239714 | T | TATATTTC others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 a0001c0001t0008g0191 |
4 | 303 | 0.0132 | 13 | c.321 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130024152 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02896.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0003c0004t0007 | a0001c0001t0006g0259 a0003c0004t0007g0257 a0003c0004t0007g0258 |
3 | 276 | 0.0109 | 13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178251 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18747.hp1 NA19005.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0004 | a0001c0002t0001g0041 a0001c0002t0001g0047 a0003c0004t0004g0235 others(1): Show |
4 | 221 | 0.0181 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0077 | 1 | 76 | 0.0132 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0024 | 1 | 76 | 0.0132 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64923273 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01192.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0075 a0001c0001t0003g0095 a0001c0001t0003g0183 others(15): Show |
26 | 299 | 0.0870 | 13 | c.40- others(26): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(32): Show |
53 | 108 | 0.4907 | 13 | c.87- others(28): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601231 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 294 | 0.0034 | 13 | c.187 others(30): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIBAR2_chr16_85093358_85117472 | 85114116 | G | GTCTCCTC others(6): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 434 | 0.0023 | 13 | c.-17 others(24): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1645 | chr16 | TogoVar | |||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 others(1): Show |
4 | 38 | 0.1053 | 13 | c.331 others(30): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12278657 | A | AGAGAAAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0347 | 1 | 446 | 0.0022 | 13 | c.*13 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1063 | chr18 | TogoVar | |||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG04204.hp2 NA19075.hp1 |
a0001a0003a0006 | a0001c0001a0003c0055a0006c0008 | a0001c0001t0012a0003c0055t0003a0006c0008t0044 | a0001c0001t0012g0348 a0003c0055t0003g0153 a0006c0008t0044g0314 |
3 | 12 | 0.2500 | 13 | c.53- others(28): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0286 | 1 | 117 | 0.0085 | 13 | c.232 others(30): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174356522 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 345 | 0.0029 | 13 | c.485 others(30): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174356526 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(63): Show |
a0001a0005a0007 | a0001c0001a0005c0007a0007c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 others(57): Show |
66 | 223 | 0.2960 | 13 | c.485 others(30): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CIROP_chr14_23094062_23109989 | 23094138 | A | AAACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | 13 | c.*51 others(24): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4923 | chr14 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 a0001c0001t0003g0120 a0001c0001t0003g0121 others(4): Show |
8 | 208 | 0.0385 | 13 | c.31+ others(28): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102868072 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0121 | 1 | 115 | 0.0087 | 13 | c.-10 others(24): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 919 | chr4 | TogoVar | |||||||
CISD2_chr4_102863992_102897807 | 102890840 | T | TAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(37): Show |
87 | 214 | 0.4065 | 13 | c.*34 others(24): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 3/3 | 3424 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CIT_chr12_119680791_119882320 | 119717838 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 82 | 0.0122 | 13 | c.416 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119731840 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0054 others(1): Show |
4 | 223 | 0.0179 | 13 | c.335 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745374 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0108 others(33): Show |
36 | 42 | 0.8571 | 13 | c.290 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745386 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 233 | 0.0043 | 13 | c.290 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745390 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 233 | 0.0043 | 13 | c.290 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119825672 | C | CTAATACA others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0183 | 1 | 234 | 0.0043 | 13 | c.754 others(28): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02896.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0008 | a0001c0003t0003g0086 a0001c0005t0008g0085 |
2 | 73 | 0.0274 | 13 | c.239 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TTAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092 | 1 | 72 | 0.0139 | 13 | c.239 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIZ1_chr9_128161065_128196572 | 128161087 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
113 | 140 | 0.8071 | 13 | c.*51 others(24): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 4977 | chr9 | TogoVar |