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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN2_chr7_29189775_29519328 | 29412334 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0122 | 1 | 230 | 0.0043 | -15 | c.576 others(34): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29440684 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0061 a0002c0003t0002g0151 |
2 | 139 | 0.0144 | -15 | c.577 others(34): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01109.hp1 others(28): Show |
a0002 | a0002c0003a0002c0004a0002c0009 | a0002c0003t0002a0002c0003t0004a0002c0003t0018others(8): Show | a0002c0003t0002g0044 a0002c0003t0002g0061 a0002c0003t0002g0112 others(28): Show |
31 | 37 | 0.8378 | -15 | c.654 others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23750922 | TTTCTTTC others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -15 | c.-41 others(26): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4103 | chr16 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110684636 | GAGCATGC others(8): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 |
3 | 170 | 0.0176 | -15 | c.989 others(32): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 9/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110767598 | CAATAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG03139.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0011 | a0001c0001t0002g0047 a0001c0001t0010g0054 a0001c0002t0011g0055 |
3 | 38 | 0.0789 | -15 | c.95- others(30): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | |||||||
CHRD_chr3_184375054_184394829 | 184385666 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0092 a0001c0008t0001g0115 |
2 | 156 | 0.0128 | -15 | c.181 others(32): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHRD_chr3_184375054_184394829 | 184390191 | TCCCTCCC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01123.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 a0001c0003t0001g0031 |
2 | 241 | 0.0083 | -15 | c.*77 others(24): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 363 | chr3 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136938915 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp2 HG01070.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0130 a0001c0001t0001g0138 others(12): Show |
15 | 30 | 0.5000 | -15 | c.-12 others(36): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137000626 | GCTTTCCT others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02818.hp2 HG02895.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0023others(4): Show | a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0013g0071 others(9): Show |
12 | 318 | 0.0377 | -15 | c.-47 others(32): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239531639 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01256.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0002g0037 a0001c0001t0002g0051 others(8): Show |
11 | 23 | 0.4783 | -15 | c.-42 others(36): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239699250 | ATGTTGAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0054 others(33): Show |
36 | 114 | 0.3158 | -15 | c.-14 others(36): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239847536 | TGGGAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0018others(3): Show | a0001c0001t0003g0039 a0001c0001t0009g0111 a0001c0001t0018g0022 others(3): Show |
6 | 114 | 0.0526 | -15 | c.-20 others(34): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34024139 | CCAGGCAT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
153 | 336 | 0.4554 | -15 | c.-40 others(36): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 34052096 | CAATGAAA others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 336 | 0.0030 | -15 | c.-76 others(32): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34059737 | ACTTCATT others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02896.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0066 a0001c0001t0004g0205 a0001c0001t0010g0015 others(2): Show |
5 | 336 | 0.0149 | -15 | c.-75 others(32): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA1_chr2_174742592_174769472 | 174768044 | ATATGTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 368 | 0.0027 | -15 | c.-36 others(26): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3573 | chr2 | TogoVar | |||||||
CHRNA2_chr8_27454756_27484261 | 27476954 | GAGGGTGT others(8): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0101 | 1 | 456 | 0.0022 | -15 | c.-13 others(34): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63357173 | TCCCACAG others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0017 | a0001c0003t0002a0001c0004t0002a0001c0004t0005others(3): Show | a0001c0003t0002g0035 a0001c0004t0002g0007 a0001c0004t0002g0016 others(14): Show |
18 | 166 | 0.1084 | -15 | c.229 others(30): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32070669 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0001a0001c0001t0029a0003c0015t0025 | a0001c0001t0001g0211 a0001c0001t0029g0212 a0003c0015t0025g0207 |
3 | 11 | 0.2727 | -15 | c.196 others(34): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNB1_chr17_7440061_7462710 | 7446302 | TTTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 366 | 0.0027 | -15 | c.243 others(30): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42709404 | TAGAAGAA others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0030 a0001c0004t0007g0031 |
2 | 280 | 0.0071 | -15 | c.204 others(30): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42720111 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01192.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(27): Show |
31 | 55 | 0.5636 | -15 | c.249 others(32): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42721722 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0111 |
2 | 60 | 0.0333 | -15 | c.250 others(32): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78632232 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 1 | 414 | 0.0024 | -15 | c.205 others(30): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104750442 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040a0001c0001t0060others(1): Show | a0001c0001t0039g0094 a0001c0001t0040g0162 a0001c0001t0060g0154 others(1): Show |
4 | 238 | 0.0168 | -15 | c.205 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434579 | TAAAAAAA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0251 | a0001c0001t0251g0270 | 1 | 15 | 0.0667 | -15 | c.*71 others(24): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 718 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2452506 | GGCCCTGC others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0240a0001c0001t0263a0001c0001t0264others(5): Show | a0001c0001t0240g0100 a0001c0001t0263g0107 a0001c0001t0264g0078 others(5): Show |
8 | 301 | 0.0266 | -15 | c.*18 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4023 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452542 | GCCCTGCC others(8): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03704.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0196a0004c0004t0235 | a0001c0001t0196g0109 a0004c0004t0235g0010 |
2 | 277 | 0.0072 | -15 | c.*18 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4059 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452547 | GCCCTGCC others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01081.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0038a0001c0001t0077a0001c0001t0189others(5): Show | a0001c0001t0038g0203 a0001c0001t0077g0142 a0001c0001t0189g0120 others(5): Show |
8 | 322 | 0.0248 | -15 | c.*18 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4064 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452552 | GCCCTCCC others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01070.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(23): Show | a0001c0001t0006g0019 a0001c0001t0007g0148 a0001c0001t0015g0151 others(23): Show |
26 | 174 | 0.1494 | -15 | c.*18 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4069 | chr7 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124022833 | TTGAGACA others(8): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0015 | 1 | 390 | 0.0026 | -15 | c.119 others(34): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045112 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0013 | a0001c0013t0014 | a0001c0013t0014g0099 | 1 | 279 | 0.0036 | -15 | c.547 others(30): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124063663 | AAGTTTCA others(8): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0338 | 1 | 390 | 0.0026 | -15 | c.-51 others(36): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33618406 | TTCTTCTT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG01358.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0178 others(14): Show |
17 | 242 | 0.0702 | -15 | c.-40 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3546 | chr19 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33618424 | GTCTTCTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG01261.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0101 others(8): Show |
11 | 126 | 0.0873 | -15 | c.-40 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3528 | chr19 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757383 | AAAAGAAG others(8): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 226 | 0.0044 | -15 | c.131 others(34): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26939635 | CATCCAAG others(8): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0010 a0001c0001t0027g0207 |
2 | 260 | 0.0077 | -15 | c.240 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0033a0001c0001t0061 | a0001c0001t0027g0207 a0001c0001t0033g0004 a0001c0001t0061g0003 |
3 | 25 | 0.1200 | -15 | c.202 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27053130 | GGAAGAAG others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0035 | 1 | 92 | 0.0109 | -15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27053259 | AAGGAGAA others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0008 a0001c0001t0024g0123 |
2 | 229 | 0.0087 | -15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101251074 | CCCGGGAT others(8): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02165.hp2 NA19056.hp1 |
a0001a0003 | a0001c0003a0003c0011 | a0001c0003t0004a0003c0011t0065 | a0001c0003t0004g0193 a0001c0003t0004g0194 a0003c0011t0065g0376 |
3 | 420 | 0.0071 | -15 | c.320 others(28): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020442 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0002others(3): Show | a0001c0001t0002g0187 a0001c0001t0002g0213 a0001c0002t0001g0015 others(27): Show |
30 | 275 | 0.1091 | -15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020444 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 NA18906.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0005others(1): Show | a0001c0002t0001a0001c0008t0001a0002c0005t0005others(1): Show | a0001c0002t0001g0007 a0001c0008t0001g0006 a0002c0005t0005g0005 others(3): Show |
6 | 270 | 0.0222 | -15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020446 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18991.hp1 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0014 | a0001c0001t0002g0184 a0001c0002t0014g0021 |
2 | 245 | 0.0082 | -15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020447 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 239 | 0.0042 | -15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020449 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0158 | 1 | 248 | 0.0040 | -15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 794857 | CTCGTGTC others(8): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0232 | 1 | 426 | 0.0023 | -15 | c.195 others(32): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 794861 | TGTCAGTC others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp1 others(40): Show |
a0003a0004a0006others(11): Show | a0003c0007a0004c0021a0006c0006others(12): Show | a0003c0007t0001a0004c0021t0001a0006c0006t0001others(12): Show | a0003c0007t0001g0008 a0003c0007t0001g0047 a0003c0007t0001g0191 others(27): Show |
43 | 426 | 0.1009 | -15 | c.195 others(32): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64090083 | CTATAATC others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 336 | 0.0030 | -15 | c.125 others(32): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 1/4 | chr15 | TogoVar |