view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD3_chr6_130139315_130227951 | 130154712 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0038a0001c0001t0001g0073others(3): Show | 6 | 338 | 0.0178 | -10 | c.102 others(27): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154714 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 338 | 0.0030 | -10 | c.102 others(27): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130205292 | ATATTTTA others(3): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 338 | 0.0030 | -10 | c.383 others(27): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01192.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0030others(25): Show | 28 | 262 | 0.1069 | -10 | c.196 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54576001 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0052a0001c0018t0084 | a0001c0001t0052g0121a0001c0018t0084g0039 | 2 | 262 | 0.0076 | -10 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54602323 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0026a0001c0001t0001g0109a0001c0001t0002g0187others(24): Show | 27 | 262 | 0.1031 | -10 | c.196 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54623483 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0003g0183 | 2 | 262 | 0.0076 | -10 | c.196 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626015 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0130 | 1 | 262 | 0.0038 | -10 | c.196 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626055 | TGTGTGCG others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0001g0036a0001c0001t0024g0191a0001c0001t0025g0147others(2): Show | 5 | 262 | 0.0191 | -10 | c.196 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54630908 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036a0001c0001t0002g0158a0001c0001t0002g0198others(9): Show | 12 | 262 | 0.0458 | -10 | c.196 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54664810 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 | 1 | 262 | 0.0038 | -10 | c.197 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0003g0237others(5): Show | 8 | 262 | 0.0305 | -10 | c.197 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54691549 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0055a0001c0001t0001g0092others(27): Show | 30 | 262 | 0.1145 | -10 | c.197 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54727166 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0217 | 1 | 262 | 0.0038 | -10 | c.716 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54757383 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0012a0001c0001t0003g0176a0001c0001t0008g0005others(6): Show | 9 | 262 | 0.0344 | -10 | c.117 others(29): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54760989 | CTGAAAGT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(113): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0036others(113): Show | 116 | 262 | 0.4428 | -10 | c.151 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
SAMD4B_chr19_39337421_39390700 | 39339703 | CCCCCCCC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 HG02451.hp2 HG02970.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0103a0001c0001t0002g0106others(10): Show | 14 | 232 | 0.0603 | -10 | c.-31 others(21): Show |
SAMD4B | ENSG00000179134.16 | transcript | ENST00000610417.5 | protein_coding | 2717 | chr19 | TogoVar | |||||||
SAMD5_chr6_147503690_147575021 | 147506122 | TAAAAAGA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0049 | a0001c0001t0001g0038a0001c0002t0049g0117 | 2 | 364 | 0.0055 | -10 | c.-28 others(21): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 2567 | chr6 | TogoVar | |||||||
SAMD5_chr6_147503690_147575021 | 147515176 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0045 | a0001c0002t0004g0161a0001c0002t0045g0091 | 2 | 364 | 0.0055 | -10 | c.459 others(27): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147567586 | TTACACCC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0288 | 1 | 364 | 0.0028 | -10 | c.*31 others(21): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 2/2 | 3135 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SAMD7_chr3_169906572_169944175 | 169907067 | TCATTCAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -10 | c.-48 others(21): Show |
SAMD7 | ENSG00000187033.9 | transcript | ENST00000335556.7 | protein_coding | 4504 | chr3 | TogoVar | |||||||
SAMD8_chr10_75106656_75187123 | 75123162 | TCACCCCA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(99): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0112a0001c0001t0002g0113others(93): Show | 102 | 324 | 0.3148 | -10 | c.-16 others(29): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75148346 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0218 | 1 | 324 | 0.0031 | -10 | c.-15 others(27): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75171160 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0071a0001c0001t0025g0067 | 2 | 324 | 0.0062 | -10 | c.792 others(27): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD9L_chr7_93125056_93153385 | 93130660 | AGTGTGTG others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02257.hp1 NA20129.hp1 |
a0005 | a0005c0009 | a0005c0009t0024 | a0005c0009t0024g0043a0005c0009t0024g0120 | 3 | 402 | 0.0075 | -10 | c.*54 others(19): Show |
SAMD9L | ENSG00000177409.12 | transcript | ENST00000318238.9 | protein_coding | 5/5 | 547 | chr7 | TogoVar | ||||||
SAMD9_chr7_93094518_93122979 | 93094827 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02717.hp2 others(5): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0005a0005c0007others(1): Show | a0001c0002t0001a0003c0005t0003a0005c0007t0001others(1): Show | a0001c0002t0001g0002a0003c0005t0003g0015a0005c0007t0001g0014others(1): Show | 8 | 392 | 0.0204 | -10 | c.*64 others(21): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 4690 | chr7 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36890388 | ATTTCTTT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0337a0001c0001t0033g0338 | 2 | 340 | 0.0059 | -10 | c.*25 others(21): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 16/16 | 2534 | chr20 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36932391 | AGGGGGTT others(3): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0074a0001c0001t0075others(2): Show | a0001c0001t0004g0222a0001c0001t0074g0220a0001c0001t0075g0244others(2): Show | 5 | 340 | 0.0147 | -10 | c.510 others(27): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 4/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36939253 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 340 | 0.0029 | -10 | c.348 others(27): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 3/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36947310 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0337a0001c0001t0033g0338 | 2 | 340 | 0.0059 | -10 | c.209 others(25): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36947405 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 340 | 0.0029 | -10 | c.209 others(25): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36947549 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02647.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0031others(1): Show | a0001c0001t0002g0224a0001c0001t0016g0310a0001c0001t0031g0307others(2): Show | 5 | 340 | 0.0147 | -10 | c.209 others(25): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36947551 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02970.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0162a0001c0001t0007g0163 | 2 | 340 | 0.0059 | -10 | c.209 others(25): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36949755 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0134 | 1 | 340 | 0.0029 | -10 | c.208 others(27): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAMM50_chr22_43950442_44001529 | 43951280 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0002 | 1 | 378 | 0.0027 | -10 | c.-42 others(21): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 4161 | chr22 | TogoVar | |||||||
SAMM50_chr22_43950442_44001529 | 43962881 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0208 | 1 | 378 | 0.0027 | -10 | c.22- others(23): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43971992 | CTCAGCCC others(3): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0140 | 1 | 378 | 0.0027 | -10 | c.323 others(25): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SANBR_chr2_61060871_61129280 | 61072821 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0191a0001c0002t0010g0190a0001c0002t0010g0192others(1): Show | 4 | 346 | 0.0116 | -10 | c.338 others(25): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SANBR_chr2_61060871_61129280 | 61073971 | GATAGTTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(223): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0041others(211): Show | 226 | 346 | 0.6532 | -10 | c.431 others(25): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SANBR_chr2_61060871_61129280 | 61102365 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 346 | 0.0029 | -10 | c.136 others(29): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAP130_chr2_127936222_128033059 | 127958635 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01978.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0137a0001c0001t0001g0167others(15): Show | 18 | 350 | 0.0514 | -10 | c.206 others(29): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128003957 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0005others(1): Show | a0001c0001t0001g0015a0001c0004t0001g0086a0001c0004t0001g0087others(10): Show | 13 | 350 | 0.0371 | -10 | c.870 others(27): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
SAP18_chr13_21135119_21154097 | 21150909 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 426 | 0.0024 | -10 | c.*35 others(21): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 1813 | chr13 | TogoVar | |||||||
SAP30BP_chr17_75662338_75713059 | 75687947 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0161 | 1 | 370 | 0.0027 | -10 | c.265 others(27): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAP30BP_chr17_75662338_75713059 | 75687951 | TGTGTGAG others(3): Show |
T | intron_variant | MODIFIER | NA18985.hp2 NA19010.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0307 | 3 | 370 | 0.0081 | -10 | c.265 others(27): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAP30L_chr5_154440997_154466053 | 154452037 | ATTGGATT others(3): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 460 | 0.0022 | -10 | c.324 others(25): Show |
SAP30L | ENSG00000164576.12 | transcript | ENST00000297109.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SAPCD1_chr6_31757656_31769850 | 31758430 | GGGAAGTA others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 417 | 0.0024 | -10 | c.-46 others(21): Show |
SAPCD1 | ENSG00000228727.10 | transcript | ENST00000415669.4 | protein_coding | 4225 | chr6 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70157401 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02647.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022a0001c0001t0032others(6): Show | a0001c0001t0010g0096a0001c0001t0022g0121a0001c0001t0022g0122others(10): Show | 15 | 420 | 0.0357 | -10 | c.348 others(25): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134598535 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0031others(70): Show | 75 | 322 | 0.2329 | -10 | c.*84 others(21): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2613 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134599953 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 322 | 0.0031 | -10 | c.*69 others(21): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 1195 | chr5 | TogoVar |