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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(31): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 224 | 0.0045 | 38 | c.*69 others(49): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1176839 | G | GTTCATTC others(31): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0072 | 1 | 432 | 0.0023 | 38 | c.-43 others(49): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 4257 | chr4 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120852718 | T | TGCATATA others(31): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174a0001c0001t0004g0175 | 2 | 320 | 0.0063 | 38 | c.24- others(55): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120852854 | C | CATATTTC others(31): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18939.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0125a0001c0001t0004g0163a0001c0001t0004g0164others(10): Show | 13 | 320 | 0.0406 | 38 | c.24- others(55): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
SPRED3_chr19_38383697_38404587 | 38397903 | T | TAAAAAAA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0073 | 1 | 360 | 0.0028 | 38 | c.*17 others(49): Show |
SPRED3 | ENSG00000188766.13 | transcript | ENST00000691638.1 | protein_coding | 6/6 | 1774 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
SPRY3_chrX_155607586_155787459 | 155777636 | T | TATATATA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0031a0001c0001t0080others(3): Show | a0001c0001t0012g0002a0001c0001t0012g0085a0001c0001t0012g0114others(6): Show | 9 | 231 | 0.0390 | 38 | c.*29 others(49): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 3/3 | 2907 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
SPSB1_chr1_9287894_9374532 | 9361156 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 370 | 0.0027 | 38 | c.694 others(55): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54522642 | A | AAGAGAGA others(31): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0151 | 1 | 370 | 0.0027 | 38 | c.-47 others(55): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54522646 | A | AAGAAAGA others(31): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03098.hp2 |
a0001 | a0001c0003a0001c0025 | a0001c0003t0003a0001c0025t0003 | a0001c0003t0003g0037a0001c0025t0003g0352 | 2 | 370 | 0.0054 | 38 | c.-47 others(55): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54522646 | A | AAGAGAGA others(31): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0320 | 1 | 370 | 0.0027 | 38 | c.-47 others(55): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAGAGA others(31): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0242 | 1 | 370 | 0.0027 | 38 | c.-47 others(55): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAGAGA others(31): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0238 | 1 | 370 | 0.0027 | 38 | c.-47 others(55): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTLC2_chr14_77500997_77621637 | 77529620 | C | CTTTCTTT others(31): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0043 | 1 | 246 | 0.0041 | 38 | c.130 others(57): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | ||||||
SPTSSB_chr3_161339798_161376517 | 161369352 | C | CTTTCTTT others(31): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 412 | 0.0024 | 38 | c.-12 others(57): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45571537 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0014 | a0014c0021 | a0014c0021t0001 | a0014c0021t0001g0094 | 1 | 358 | 0.0028 | 38 | c.130 others(57): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31526104 | C | CATATATA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0131a0001c0001t0005g0160a0001c0001t0005g0166others(1): Show | 4 | 386 | 0.0104 | 38 | c.*91 others(45): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 5/5 | 91 | chr2 | TogoVar | |||||
SRFBP1_chr5_121956975_122033633 | 121961698 | A | AACGAACA others(31): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0038 | 1 | 228 | 0.0044 | 38 | c.-33 others(47): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 276 | chr5 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02922.hp2 HG03486.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0004others(1): Show | a0001c0002t0048a0001c0008t0131a0002c0004t0152others(1): Show | a0001c0002t0048g0120a0001c0008t0131g0020a0002c0004t0152g0109others(1): Show | 4 | 170 | 0.0235 | 38 | c.490 others(55): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP2_chr1_206198541_206469436 | 206279581 | A | ATTTTTTT others(31): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0164 | 1 | 182 | 0.0055 | 38 | c.68- others(55): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRL_chr16_4184374_4247080 | 4184819 | T | TCACCTTG others(31): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(135): Show | 140 | 358 | 0.3911 | 38 | c.*73 others(49): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4554 | chr16 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 396 | 0.0025 | 38 | c.-34 others(55): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 396 | 0.0025 | 38 | c.-34 others(55): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SRP68_chr17_76033785_76077517 | 76062732 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0332 | 1 | 365 | 0.0027 | 38 | c.562 others(55): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062732 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03130.hp1 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309a0001c0003t0001g0310a0001c0003t0001g0311 | 3 | 365 | 0.0082 | 38 | c.562 others(55): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062736 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 365 | 0.0027 | 38 | c.562 others(55): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | ||||||
SRPK2_chr7_105111374_105393921 | 105159464 | A | AACAAAAA others(31): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 282 | 0.0036 | 38 | c.621 others(55): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 352 | 0.0028 | 38 | c.-28 others(49): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 352 | 0.0028 | 38 | c.-28 others(49): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76405319 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0299 | 1 | 388 | 0.0026 | 38 | c.-66 others(53): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495216 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0121 | 1 | 412 | 0.0024 | 38 | c.138 others(55): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0245 | 1 | 412 | 0.0024 | 38 | c.138 others(55): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 232 | 0.0043 | 38 | c.63+ others(55): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
SSR1_chr6_7276143_7318199 | 7278337 | G | GTGTGTGT others(31): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0329 | 1 | 434 | 0.0023 | 38 | c.*11 others(51): Show |
SSR1 | ENSG00000124783.14 | transcript | ENST00000244763.9 | protein_coding | 2805 | chr6 | TogoVar | ||||||
SSTR5_chr16_1067747_1086454 | 1076148 | T | TCTCCCCC others(31): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0112 | 1 | 350 | 0.0029 | 38 | c.-27 others(55): Show |
SSTR5 | ENSG00000162009.10 | transcript | ENST00000689027.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SSU72_chr1_1536673_1579863 | 1540128 | G | GGGGGAGC others(31): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0134a0001c0001t0005g0135 | 2 | 386 | 0.0052 | 38 | c.*19 others(49): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1544 | chr1 | TogoVar | ||||||
ST3GAL1_chr8_133449848_133576887 | 133541120 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0136 | 1 | 332 | 0.0030 | 38 | c.-42 others(57): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
ST3GAL2_chr16_70370977_70444100 | 70410240 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 312 | 0.0032 | 38 | c.-10 others(61): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43917517 | T | TATATATT others(31): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 274 | 0.0037 | 38 | c.745 others(55): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST6GALNAC3_chr1_76069746_76639603 | 76183851 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 102 | 0.0098 | 38 | c.18+ others(57): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST6GALNAC3_chr1_76069746_76639603 | 76525805 | A | ACGTATAT others(31): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010 | a0001c0001t0010g0063a0001c0003t0010g0086 | 2 | 102 | 0.0196 | 38 | c.624 others(59): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 76862792 | C | CACATAAT others(31): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 202 | 0.0050 | 38 | c.-48 others(49): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 4687 | chr1 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46710411 | C | CTTTCTTT others(31): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02723.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0094others(1): Show | a0001c0001t0003g0193a0001c0001t0016g0035a0001c0001t0094g0209others(1): Show | 4 | 362 | 0.0111 | 38 | c.132 others(55): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | ||||||
ST8SIA6_chr10_17310421_17459595 | 17374748 | A | AAATAAAT others(31): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 296 | 0.0034 | 38 | c.291 others(57): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 3/7 | chr10 | TogoVar | ||||||
ST8SIA6_chr10_17310421_17459595 | 17374764 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 296 | 0.0034 | 38 | c.291 others(57): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 3/7 | chr10 | TogoVar | ||||||
ST8SIA6_chr10_17310421_17459595 | 17374764 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02055.hp1 HG02165.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0002g0245others(6): Show | 9 | 296 | 0.0304 | 38 | c.291 others(57): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 3/7 | chr10 | TogoVar | ||||||
STAC_chr3_36375504_36553007 | 36492031 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 316 | 0.0032 | 38 | c.688 others(55): Show |
STAC | ENSG00000144681.11 | transcript | ENST00000273183.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STAG1_chr3_136331236_136757378 | 136498233 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0046 | 2 | 240 | 0.0083 | 38 | c.902 others(55): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 9/33 | chr3 | TogoVar | ||||||
STAG1_chr3_136331236_136757378 | 136498233 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0143 | 1 | 240 | 0.0042 | 38 | c.902 others(55): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 9/33 | chr3 | TogoVar | ||||||
STAM2_chr2_152111801_152180763 | 152159094 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 NA18952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0003g0181a0001c0001t0003g0226a0001c0001t0004g0197others(4): Show | 7 | 360 | 0.0194 | 38 | c.41- others(53): Show |
STAM2 | ENSG00000115145.10 | transcript | ENST00000263904.5 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
STARD7_chr2_96179859_96213827 | 96197072 | A | AAACTAAA others(31): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19003.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0208a0001c0001t0003g0218a0001c0001t0010g0039 | 3 | 358 | 0.0084 | 38 | c.291 others(55): Show |
STARD7 | ENSG00000084090.14 | transcript | ENST00000337288.10 | protein_coding | 1/7 | chr2 | TogoVar |