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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA1_chr2_174742592_174769472 | 174766345 | TGAAAA | T | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0058 a0001c0001t0001g0133 a0001c0001t0002g0059 others(1): Show |
4 | 370 | 0.0108 | -5 | c.-19 others(16): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 1874 | chr2 | TogoVar | |||||||
CHRNA1_chr2_174742592_174769472 | 174768159 | ATATAT | A | upstream_gene_variant | MODIFIER | NA18968.hp2 NA18974.hp1 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0076 |
3 | 370 | 0.0081 | -5 | c.-37 others(16): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3688 | chr2 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78595271 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0068 a0002c0002t0002g0069 |
3 | 410 | 0.0073 | -5 | c.*13 others(16): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 37 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78600540 | TTACTC | T | intron_variant | MODIFIER | HG01123.hp2 NA18975.hp1 NA19057.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0005a0002c0009t0005 | a0002c0002t0005g0030 a0002c0009t0005g0071 |
3 | 410 | 0.0073 | -5 | c.138 others(22): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78621616 | TCAAAA | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0001a0001c0005t0005a0001c0016t0017 | a0001c0001t0001g0045 a0001c0001t0001g0212 a0001c0001t0001g0216 others(2): Show |
6 | 410 | 0.0146 | -5 | c.-82 others(14): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 621 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78567263 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(52): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0005others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 others(43): Show |
55 | 382 | 0.1440 | -5 | c.106 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78582491 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(69): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0015others(9): Show | a0001c0001t0005g0001 a0001c0001t0005g0034 a0001c0001t0005g0211 others(50): Show |
72 | 382 | 0.1885 | -5 | c.258 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32027719 | CCACTG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0027others(18): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 others(44): Show |
48 | 307 | 0.1564 | -5 | c.-28 others(16): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2795 | chr15 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32052197 | ATTTTT | A | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0008a0001c0002t0002a0001c0003t0035others(4): Show | a0001c0001t0008g0118 a0001c0002t0002g0181 a0001c0003t0035g0024 others(4): Show |
7 | 307 | 0.0228 | -5 | c.195 others(24): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32070669 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(88): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(36): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(87): Show |
91 | 307 | 0.2964 | -5 | c.196 others(24): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32119004 | AATAGT | A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01069.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(11): Show | a0001c0001t0001g0242 a0001c0001t0003g0025 a0001c0001t0003g0232 others(21): Show |
24 | 307 | 0.0782 | -5 | c.350 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32164913 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG01952.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0001g0223 a0001c0001t0001g0270 a0001c0001t0012g0293 others(4): Show |
7 | 307 | 0.0228 | -5 | c.990 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32166520 | TGATAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0013a0001c0001t0053a0001c0001t0054others(2): Show | a0001c0001t0013g0204 a0001c0001t0013g0205 a0001c0001t0053g0081 others(4): Show |
7 | 307 | 0.0228 | -5 | c.991 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40339279 | CAAAAA | C | intron_variant | MODIFIER | NA18948.hp2 NA18954.hp1 NA18955.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 others(3): Show |
6 | 420 | 0.0143 | -5 | c.365 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40352876 | GGTCAA | G | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0042 others(2): Show |
9 | 420 | 0.0214 | -5 | c.899 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHRNB2_chr1_154562778_154585013 | 154574056 | ATCTTG | A | intron_variant | MODIFIER | HG04228.hp1 NA19056.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0030a0001c0004t0001 | a0001c0001t0007g0011 a0001c0001t0030g0011 a0001c0004t0001g0011 |
3 | 424 | 0.0071 | -5 | c.133 others(24): Show |
CHRNB2 | ENSG00000160716.6 | transcript | ENST00000368476.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42721722 | CAAACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(200): Show |
208 | 282 | 0.7376 | -5 | c.250 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78621616 | TCAAAA | T | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0001g0156 a0001c0001t0007g0176 others(1): Show |
5 | 416 | 0.0120 | -5 | c.*35 others(16): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2494 | chr15 | TogoVar | |||||||
CHRND_chr2_232521160_232541664 | 232531946 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(95): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(7): Show | a0001c0001t0002g0012 a0001c0001t0012g0012 a0001c0002t0002g0001 others(22): Show |
98 | 438 | 0.2237 | -5 | c.104 others(22): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CHST10_chr2_100386860_100422668 | 100408130 | TTAGTA | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00735.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(13): Show | a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0023 others(34): Show |
82 | 364 | 0.2253 | -5 | c.-32 others(22): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104546475 | AAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0033 others(35): Show |
38 | 240 | 0.1583 | -5 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104633293 | TAAAAG | T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0060 | a0001c0001t0001g0211 a0001c0001t0017g0015 a0001c0001t0017g0065 others(1): Show |
4 | 240 | 0.0167 | -5 | c.204 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104750428 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0100 others(4): Show |
7 | 240 | 0.0292 | -5 | c.205 others(22): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2408362 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp1 others(76): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0007a0001c0001t0020a0001c0001t0021others(64): Show | a0001c0001t0007g0010 a0001c0001t0007g0029 a0001c0001t0007g0067 others(74): Show |
79 | 344 | 0.2297 | -5 | c.-78 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2414111 | CTTCTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01261.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0018a0003c0003t0035a0003c0003t0092others(2): Show | a0003c0003t0018g0119 a0003c0003t0018g0155 a0003c0003t0035g0153 others(3): Show |
6 | 344 | 0.0174 | -5 | c.-78 others(24): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434579 | TAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00738.hp2 others(56): Show |
a0001a0004a0011 | a0001c0001a0001c0006a0004c0004others(1): Show | a0001c0001t0007a0001c0001t0020a0001c0001t0021others(45): Show | a0001c0001t0007g0010 a0001c0001t0007g0029 a0001c0001t0007g0067 others(54): Show |
59 | 344 | 0.1715 | -5 | c.*72 others(14): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 728 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2452501 | TGCCCG | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02735.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0197a0001c0001t0217a0002c0002t0003 | a0001c0001t0197g0236 a0001c0001t0217g0241 a0002c0002t0003g0287 |
3 | 344 | 0.0087 | -5 | c.*18 others(18): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4018 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452552 | GCCCTC | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01943.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0010a0001c0001t0012a0001c0001t0025others(29): Show | a0001c0001t0010g0030 a0001c0001t0012g0019 a0001c0001t0025g0074 others(31): Show |
34 | 344 | 0.0988 | -5 | c.*18 others(18): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4069 | chr7 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491191 | ATATAT | A | intron_variant | MODIFIER | HG02622.hp2 HG03688.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0019 | a0001c0001t0005g0172 a0001c0001t0011g0065 a0001c0001t0019g0307 |
3 | 371 | 0.0081 | -5 | c.-92 others(22): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST7_chrX_46568765_46603496 | 46569843 | ACTTCT | A | upstream_gene_variant | MODIFIER | HG02155.hp1 HG02735.hp1 HG04115.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 others(2): Show |
5 | 311 | 0.0161 | -5 | c.-40 others(16): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 3921 | chrX | TogoVar | |||||||
CHST7_chrX_46568765_46603496 | 46598149 | CTGTCT | C | 3_prime_UTR_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0132 | 1 | 311 | 0.0032 | -5 | c.*42 others(14): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 2/2 | 22760 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33618501 | CTTCTT | C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 others(6): Show |
9 | 254 | 0.0354 | -5 | c.-39 others(16): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3451 | chr19 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33634677 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(60): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0065 others(60): Show |
63 | 254 | 0.2480 | -5 | c.-16 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33698398 | AAAAAG | A | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(20): Show |
23 | 254 | 0.0906 | -5 | c.130 others(22): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757528 | GAAAGA | G | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01975.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0113 others(2): Show |
5 | 254 | 0.0197 | -5 | c.131 others(24): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26930928 | ATGGGG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(124): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(124): Show |
127 | 262 | 0.4847 | -5 | c.240 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27019689 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(11): Show | a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0004g0052 others(35): Show |
38 | 262 | 0.1450 | -5 | c.202 others(22): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27178660 | AAAGAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0086 others(167): Show |
170 | 262 | 0.6489 | -5 | c.-97 others(22): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 1/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27186080 | TCCTGC | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00673.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0184 others(21): Show |
24 | 262 | 0.0916 | -5 | c.-10 others(16): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 773 | chr18 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101186799 | CAAACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(80): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(347): Show |
378 | 422 | 0.8957 | -5 | c.817 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101194255 | GAAAGA | G | intron_variant | MODIFIER | NA18970.hp2 NA19074.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0003g0240 |
3 | 422 | 0.0071 | -5 | c.817 others(24): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130055396 | CATCCA | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0003 | a0001c0001t0006a0001c0022t0006a0002c0003t0006others(1): Show | a0001c0001t0006g0264 a0001c0001t0006g0267 a0001c0001t0006g0268 others(6): Show |
9 | 276 | 0.0326 | -5 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130055404 | AATAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0003 | a0001c0001t0006a0001c0022t0006a0002c0003t0006others(1): Show | a0001c0001t0006g0264 a0001c0001t0006g0267 a0001c0001t0006g0268 others(6): Show |
9 | 276 | 0.0326 | -5 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130189063 | TTACTC | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp1 others(36): Show |
a0002a0003a0005others(2): Show | a0002c0005a0003c0004a0003c0006others(3): Show | a0002c0005t0019a0003c0004t0004a0003c0004t0007others(4): Show | a0002c0005t0019g0079 a0003c0004t0004g0001 a0003c0004t0004g0030 others(36): Show |
39 | 276 | 0.1413 | -5 | c.*32 others(16): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2430 | chr5 | TogoVar | |||||||
CHURC1_chr14_64909455_64940368 | 64921470 | CAAAAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(111): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0032 others(71): Show |
114 | 392 | 0.2908 | -5 | c.40- others(20): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64935337 | TAATAA | T | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0033 others(10): Show |
27 | 392 | 0.0689 | -5 | c.*31 others(16): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 4/4 | 3115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIAO1_chr2_96261225_96279173 | 96268891 | AAACTC | A | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0084 |
3 | 404 | 0.0074 | -5 | c.691 others(20): Show |
CIAO1 | ENSG00000144021.3 | transcript | ENST00000488633.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64077297 | CAACAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(3): Show |
6 | 338 | 0.0178 | -5 | c.340 others(22): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
CIAPIN1_chr16_57423187_57452385 | 57433105 | CAAGAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0116 |
6 | 390 | 0.0154 | -5 | c.557 others(20): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 5/8 | chr16 | TogoVar | |||||||
CIAPIN1_chr16_57423187_57452385 | 57445834 | GTTTTT | G | intron_variant | MODIFIER | HG02132.hp2 HG02155.hp2 HG02922.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0020 others(8): Show |
16 | 390 | 0.0410 | -5 | c.-56 others(22): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/8 | chr16 | TogoVar |