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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN2_chr7_29189775_29519328 | 29302264 | TCCCTCTT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp1 |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0001a0002c0003t0002 | a0001c0005t0001g0051a0002c0003t0002g0154 | 2 | 232 | 0.0086 | -15 | c.50- others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29412334 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0132 | 1 | 232 | 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 | a0002c0003t0002g0069a0002c0003t0002g0154 | 2 | 232 | 0.0086 | -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 | a0002c0003t0002g0069a0002c0003t0002g0070a0002c0003t0002g0142others(28): Show | 31 | 232 | 0.1336 | -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 | 392 | 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 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027 | 3 | 172 | 0.0174 | -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 | a0001c0001t0002g0046a0001c0001t0010g0054a0001c0002t0011g0055 | 3 | 172 | 0.0174 | -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 | a0001c0001t0001g0105a0001c0008t0001g0132 | 2 | 428 | 0.0047 | -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 | a0001c0003t0001g0036a0001c0003t0001g0037 | 2 | 428 | 0.0047 | -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 |
a0001a0006 | a0001c0001a0001c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0130a0001c0001t0001g0138others(12): Show | 15 | 320 | 0.0469 | -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 | a0001c0001t0013g0068a0001c0001t0013g0069a0001c0001t0013g0070others(9): Show | 12 | 320 | 0.0375 | -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 | a0001c0001t0001g0005a0001c0001t0002g0037a0001c0001t0002g0051others(8): Show | 11 | 116 | 0.0948 | -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 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0054others(33): Show | 36 | 116 | 0.3103 | -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 | a0001c0001t0003g0039a0001c0001t0009g0111a0001c0001t0018g0022others(3): Show | 6 | 116 | 0.0517 | -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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0067others(148): Show | 153 | 338 | 0.4527 | -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 | a0001c0001t0010g0010 | 1 | 338 | 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 | a0001c0001t0004g0066a0001c0001t0004g0209a0001c0001t0010g0010others(2): Show | 5 | 338 | 0.0148 | -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 | a0001c0001t0001g0154 | 1 | 370 | 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 | a0003c0003t0002g0097 | 1 | 458 | 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 |
a0000a0001 | a0000c0017a0001c0003a0001c0004 | a0000c0017t0007a0001c0003t0005a0001c0004t0005others(3): Show | a0000c0017t0007g0104a0001c0003t0005g0127a0001c0004t0005g0012others(13): Show | 18 | 168 | 0.1071 | -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 | a0001c0001t0001a0001c0001t0029a0003c0015t0024 | a0001c0001t0001g0212a0001c0001t0029g0213a0003c0015t0024g0208 | 3 | 307 | 0.0098 | -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 | a0001c0001t0001g0283 | 1 | 368 | 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 | a0001c0004t0007g0025a0001c0004t0007g0026 | 2 | 282 | 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 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(28): Show | 31 | 282 | 0.1099 | -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 | a0001c0001t0001g0097a0001c0001t0001g0104 | 2 | 282 | 0.0071 | -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 | a0001c0001t0010g0066 | 1 | 416 | 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 | a0001c0001t0039g0092a0001c0001t0040g0160a0001c0001t0060g0152others(1): Show | 4 | 240 | 0.0167 | -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 | a0001c0001t0282 | a0001c0001t0282g0271 | 1 | 344 | 0.0029 | -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 | a0001c0001t0228a0001c0001t0229a0001c0001t0272others(5): Show | a0001c0001t0228g0106a0001c0001t0229g0076a0001c0001t0272g0098others(5): Show | 8 | 344 | 0.0233 | -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 | a0001c0001t0221a0004c0004t0239 | a0001c0001t0221g0108a0004c0004t0239g0063 | 2 | 344 | 0.0058 | -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 | a0001c0001t0034a0001c0001t0068a0001c0001t0140others(5): Show | a0001c0001t0034g0203a0001c0001t0068g0143a0001c0001t0140g0120others(5): Show | 8 | 344 | 0.0233 | -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 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(23): Show | a0001c0001t0004g0006a0001c0001t0009g0152a0001c0001t0010g0149others(23): Show | 26 | 344 | 0.0756 | -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 | a0001c0001t0018g0014 | 1 | 392 | 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 | a0001c0013t0014g0107 | 1 | 392 | 0.0026 | -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 | a0001c0002t0001g0339 | 1 | 392 | 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 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0178others(14): Show | 17 | 254 | 0.0669 | -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 | a0001c0001t0001g0083a0001c0001t0001g0097a0001c0001t0001g0103others(8): Show | 11 | 254 | 0.0433 | -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 | a0001c0001t0001g0116 | 1 | 254 | 0.0039 | -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 | a0001c0001t0027g0010a0001c0001t0027g0207 | 2 | 262 | 0.0076 | -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 | a0001c0001t0027g0207a0001c0001t0033g0004a0001c0001t0061g0003 | 3 | 262 | 0.0115 | -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 | 262 | 0.0038 | -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 | a0001c0001t0001g0008a0001c0001t0024g0123 | 2 | 262 | 0.0076 | -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 | a0001c0003t0004g0224a0001c0003t0004g0225a0003c0011t0065g0376 | 3 | 422 | 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 | a0001c0001t0002g0189a0001c0001t0002g0213a0001c0002t0001g0015others(27): Show | 30 | 276 | 0.1087 | -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 | a0001c0002t0001g0007a0001c0008t0001g0006a0002c0005t0005g0005others(3): Show | 6 | 276 | 0.0217 | -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 | a0001c0001t0002g0184a0001c0002t0014g0021 | 2 | 276 | 0.0073 | -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 | 276 | 0.0036 | -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 | 276 | 0.0036 | -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 | a0007c0012t0003g0263 | 1 | 428 | 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 | a0003c0007t0001g0038a0003c0007t0001g0039a0003c0007t0001g0204others(34): Show | 43 | 428 | 0.1005 | -15 | c.195 others(32): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |