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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT4_chr6_161124967_161279061 | 161219872 | T | TAGATAGG others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0002t0004others(1): Show | a0001c0001t0009g0001 a0001c0001t0009g0168 a0001c0001t0009g0255 others(3): Show |
7 | 169 | 0.0414 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219872 | T | TAGGCAGG others(5): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 a0001c0001t0003g0227 |
2 | 164 | 0.0122 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219916 | C | CAGGCAGG others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0032 | 1 | 118 | 0.0085 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219916 | C | CGGCAGGC others(5): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18977.hp2 NA19060.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0064a0001c0001t0066a0001c0002t0004 | a0001c0001t0064g0122 a0001c0001t0066g0178 a0001c0002t0004g0146 |
3 | 120 | 0.0250 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219946 | G | GCAGACAG others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03195.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0025others(1): Show | a0001c0001t0007g0182 a0001c0001t0018g0135 a0001c0001t0025g0016 others(1): Show |
4 | 160 | 0.0250 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219946 | G | GCAGGCAG others(5): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0177 | 1 | 157 | 0.0064 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219946 | G | GCAGGCAG others(5): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0238 a0001c0001t0003g0223 |
2 | 158 | 0.0127 | 12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0026a0001c0001t0047others(1): Show | a0001c0001t0021g0025 a0001c0001t0026g0220 a0001c0001t0047g0197 others(1): Show |
4 | 136 | 0.0294 | 12 | c.178 others(29): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161272705 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18949.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0072 | a0001c0001t0002g0200 a0001c0001t0005g0257 a0001c0002t0072g0162 |
3 | 137 | 0.0219 | 12 | c.-90 others(29): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6707320 | A | AATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02683.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0002 | a0001c0001t0001g0149 a0001c0001t0001g0262 a0001c0001t0003g0116 others(2): Show |
5 | 44 | 0.1136 | 12 | c.-13 others(23): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1321 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 77 | 0.0130 | 12 | c.*47 others(23): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177414897 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01978.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0252 others(9): Show |
12 | 51 | 0.2353 | 12 | c.261 others(29): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GGGTATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0114 a0001c0001t0001g0139 a0001c0001t0001g0143 others(5): Show |
8 | 17 | 0.4706 | 12 | c.441 others(27): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177434997 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02074.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0048 | a0001c0001t0002g0249 a0001c0002t0048g0008 |
2 | 11 | 0.1818 | 12 | c.441 others(27): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0016 | 1 | 21 | 0.0476 | 12 | c.442 others(27): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177438983 | T | TACGCACA others(5): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0011g0247 others(1): Show |
4 | 21 | 0.1905 | 12 | c.637 others(29): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16791101 | G | GAGGGAGA others(5): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 HG03669.hp2 HG03688.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0026 a0001c0001t0003g0051 a0001c0001t0003g0151 others(4): Show |
9 | 433 | 0.0208 | 12 | c.*18 others(23): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 709 | chr7 | TogoVar | |||||||
AGR2_chr7_16786811_16809999 | 16804267 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03704.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0095 a0001c0001t0003g0042 a0001c0001t0003g0099 |
3 | 304 | 0.0099 | 12 | c.-8+ others(25): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16885081 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | 448 | 0.0134 | 12 | c.-31 others(23): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 3099 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16886695 | T | TTTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18974.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0209 a0001c0001t0001g0227 |
3 | 143 | 0.0210 | 12 | c.-47 others(23): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4713 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16886739 | A | ATTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 379 | 0.0026 | 12 | c.-48 others(23): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4757 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1059640 | T | TCGGGGCG others(5): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01243.hp2 others(35): Show |
a0001a0002a0006others(9): Show | a0001c0002a0001c0011a0001c0012others(19): Show | a0001c0002t0004a0001c0011t0006a0001c0012t0006others(20): Show | a0001c0002t0004g0049 a0001c0011t0006g0014 a0001c0012t0006g0058 others(34): Show |
38 | 208 | 0.1827 | 12 | c.*46 others(23): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 3525 | chr1 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85566529 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 |
3 | 77 | 0.0390 | 12 | c.350 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01943.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0108 |
2 | 105 | 0.0190 | 12 | c.350 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02071.hp2 HG02083.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(17): Show |
20 | 80 | 0.2500 | 12 | c.233 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85630391 | C | CTTATTTA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03098.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0161 |
3 | 272 | 0.0110 | 12 | c.201 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85691536 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0298 | 1 | 189 | 0.0053 | 12 | c.157 others(29): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85712035 | G | GGGTGGAT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 others(5): Show |
8 | 299 | 0.0268 | 12 | c.32+ others(25): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85741926 | C | CGGCGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01261.hp1 |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0006a0005c0014t0006 | a0001c0001t0006g0298 a0005c0014t0006g0299 |
2 | 300 | 0.0067 | 12 | c.-18 others(21): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/26 | 29394 | chr9 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148732883 | G | GGCGCCCG others(5): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18747.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0120 a0001c0002t0001g0096 a0001c0002t0001g0118 others(2): Show |
5 | 348 | 0.0144 | 12 | c.-47 others(29): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230701148 | T | TTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 |
2 | 32 | 0.0625 | 12 | c.*19 others(23): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35028558 | T | TGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18945.hp1 NA19068.hp1 others(2): Show |
a0002a0010a0023 | a0002c0002a0010c0014a0023c0036 | a0002c0002t0001a0010c0014t0002a0023c0036t0001 | a0002c0002t0001g0041 a0002c0002t0001g0053 a0002c0002t0001g0115 others(2): Show |
5 | 24 | 0.2083 | 12 | c.770 others(29): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 2 | 134 | 0.0149 | 12 | c.*17 others(23): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG03579.hp2 |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0013a0010c0014t0008 | a0001c0001t0013g0033 a0010c0014t0008g0084 |
2 | 252 | 0.0079 | 12 | c.*48 others(23): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01346.hp1 HG02165.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0007a0002c0008others(8): Show | a0001c0004t0002a0001c0004t0008a0001c0007t0001others(10): Show | a0001c0004t0002g0059 a0001c0004t0002g0161 a0001c0004t0008g0294 others(18): Show |
21 | 105 | 0.2000 | 12 | c.*63 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0364 a0001c0001t0004g0367 a0001c0001t0004g0368 |
3 | 82 | 0.0366 | 12 | c.149 others(29): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246909079 | A | ATATCTAT others(5): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0001a0004c0005t0005a0005c0006t0001 | a0001c0001t0001g0162 a0001c0001t0001g0260 a0001c0001t0001g0261 others(6): Show |
9 | 148 | 0.0608 | 12 | c.557 others(29): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246929410 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02055.hp2 others(6): Show |
a0001a0003 | a0001c0037a0003c0003 | a0001c0037t0001a0003c0003t0001 | a0001c0037t0001g0287 a0003c0003t0001g0280 a0003c0003t0001g0281 others(6): Show |
9 | 136 | 0.0662 | 12 | c.-8+ others(27): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246933121 | T | TTTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02559.hp1 others(8): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0004a0005c0006others(3): Show | a0001c0001t0001a0001c0004t0002a0005c0006t0001others(3): Show | a0001c0001t0001g0042 a0001c0004t0002g0021 a0001c0004t0002g0022 others(8): Show |
11 | 146 | 0.0753 | 12 | c.-15 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1174 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 132 | 0.0076 | 12 | c.*43 others(23): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129267233 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01257.hp1 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0002g0177 others(11): Show |
14 | 290 | 0.0483 | 12 | c.363 others(31): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129280178 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(122): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0001t0001g0147 others(122): Show |
125 | 142 | 0.8803 | 12 | c.363 others(31): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0208 | 1 | 11 | 0.0909 | 12 | c.363 others(31): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0002g0034 |
2 | 145 | 0.0138 | 12 | c.364 others(31): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0001g0128 a0001c0001t0001g0155 others(4): Show |
7 | 114 | 0.0614 | 12 | c.*44 others(29): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27595450 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02622.hp1 others(7): Show |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0001a0001c0001t0002a0010c0021t0001 | a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0148 others(6): Show |
10 | 144 | 0.0694 | 12 | c.-62 others(31): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608841 | C | CGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0072 others(2): Show |
5 | 47 | 0.1064 | 12 | c.-55 others(23): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135290913 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG01891.hp2 others(21): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0002g0074 a0001c0001t0002g0110 a0001c0001t0002g0120 others(21): Show |
24 | 157 | 0.1529 | 12 | c.348 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135292109 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 131 | 0.0076 | 12 | c.348 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0042 a0001c0001t0003g0018 a0001c0001t0003g0032 others(12): Show |
15 | 86 | 0.1744 | 12 | c.316 others(33): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar |