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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC38A9_chr5_55620848_55717324 | 55695935 | C | CGGGCGGG others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0011a0002c0015others(4): Show | a0002c0002t0001a0002c0011t0001a0002c0015t0001others(4): Show | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 others(126): Show |
129 | 350 | 0.3686 | 49 | c.113 others(66): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
SLC38A9_chr5_55620848_55717324 | 55696001 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0011a0002c0015others(4): Show | a0002c0002t0001a0002c0011t0001a0002c0015t0001others(4): Show | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 others(120): Show |
123 | 350 | 0.3514 | 49 | c.113 others(66): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
SLC38A9_chr5_55620848_55717324 | 55696001 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19072.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0329 a0002c0002t0001g0330 |
2 | 350 | 0.0057 | 49 | c.113 others(66): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0324 | 1 | 370 | 0.0027 | 49 | c.274 others(66): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215583 | A | ACCCCCAC others(42): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 410 | 0.0024 | 49 | c.356 others(64): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC9A2_chr2_102614553_102716355 | 102695791 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0010a0001c0003t0003 | a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0038 others(20): Show |
23 | 344 | 0.0669 | 49 | c.158 others(66): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62666118 | G | GCCCCCCC others(42): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0002 | a0001c0001t0003g0356 a0001c0007t0002g0044 |
2 | 432 | 0.0046 | 49 | c.127 others(66): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69772563 | A | AGAAAGAA others(42): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 280 | 0.0036 | 49 | c.908 others(68): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLPI_chr20_45247239_45259564 | 45258278 | A | AGATATAG others(42): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 398 | 0.0025 | 49 | c.-37 others(60): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 3715 | chr20 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760427 | A | ACAATCCA others(42): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 446 | 0.0022 | 49 | c.*41 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3910 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760574 | C | CCAATCCA others(42): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 446 | 0.0022 | 49 | c.*40 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3763 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760619 | C | CCATACAA others(42): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0019 others(27): Show |
101 | 446 | 0.2265 | 49 | c.*39 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3718 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760766 | C | CCATACAA others(42): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00738.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(13): Show |
30 | 446 | 0.0673 | 49 | c.*38 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3571 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760770 | A | ACAATCCA others(42): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 446 | 0.0022 | 49 | c.*38 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3567 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760794 | A | AATTCAGT others(42): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 446 | 0.0022 | 49 | c.*38 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3543 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760913 | C | CCATACAA others(42): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0098 a0001c0001t0004g0027 a0001c0001t0004g0097 |
5 | 446 | 0.0112 | 49 | c.*36 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3424 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142760913 | C | CCATACAA others(42): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(122): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(38): Show |
125 | 446 | 0.2803 | 49 | c.*36 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3424 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142761037 | G | GTAATTCA others(42): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0111 |
3 | 446 | 0.0067 | 49 | c.*35 others(60): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 3300 | chr8 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850669 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0244 | a0001c0001t0244g0122 | 1 | 310 | 0.0032 | 49 | c.784 others(64): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850755 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0235 | a0001c0001t0235g0173 | 1 | 310 | 0.0032 | 49 | c.784 others(64): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMIM21_chr18_75404476_75432703 | 75405525 | T | TGACAGGT others(42): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 432 | 0.0023 | 49 | c.*53 others(60): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 3950 | chr18 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129512549 | A | AGCCACAA others(42): Show |
3_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0006 | a0006c0005 | a0006c0005t0005 | a0006c0005t0005g0067 | 1 | 422 | 0.0024 | 49 | c.*10 others(58): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 2/2 | 109 | chr7 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168488746 | G | GATCACAC others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 180 | 0.0056 | 49 | c.85- others(66): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6387203 | C | CTGGGCGA others(42): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG02258.hp2 HG03579.hp2 others(4): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 others(2): Show |
7 | 388 | 0.0180 | 49 | c.-33 others(60): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3270 | chr11 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54188303 | A | ATAATAAT others(42): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0071 a0001c0001t0006g0070 |
2 | 438 | 0.0046 | 49 | c.-10 others(66): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063257 | A | ATATATAA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0255 | 1 | 264 | 0.0038 | 49 | c.56- others(64): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403374 | G | GGAGAAAG others(42): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0049 | a0001c0049t0001 | a0001c0049t0001g0169 | 1 | 380 | 0.0026 | 49 | c.-32 others(60): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3205 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403416 | C | CGGGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0220 | 1 | 380 | 0.0026 | 49 | c.-32 others(60): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3247 | chr9 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(42): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0110 | 1 | 344 | 0.0029 | 49 | c.806 others(64): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX18_chr5_54512759_54551586 | 54513684 | T | TTATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 390 | 0.0026 | 49 | c.-42 others(60): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4074 | chr5 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54513747 | T | TTATATAA others(42): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0011 | a0011c0023 | a0011c0023t0003 | a0011c0023t0003g0063 | 1 | 390 | 0.0026 | 49 | c.-42 others(60): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4011 | chr5 | TogoVar | |||||||
SNX30_chr9_112745760_112879987 | 112756797 | C | CGGCCGCA others(42): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 338 | 0.0030 | 49 | c.156 others(66): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557557 | T | TTCTTCTT others(42): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 a0001c0001t0003g0297 a0001c0001t0003g0302 |
3 | 322 | 0.0093 | 49 | c.*55 others(60): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3535 | chr14 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268694 | C | CCCGGCCA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0026 others(104): Show |
109 | 370 | 0.2946 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268697 | A | AGCCAGCC others(42): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(44): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0021a0002c0004others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(10): Show | a0001c0001t0003g0038 a0001c0001t0003g0066 a0001c0001t0003g0067 others(44): Show |
47 | 370 | 0.1270 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268727 | G | GGGTGTCA others(42): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02155.hp1 NA18955.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0021 a0001c0001t0009g0081 a0001c0001t0009g0108 others(2): Show |
5 | 370 | 0.0135 | 49 | c.621 others(64): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0276 | 1 | 302 | 0.0033 | 49 | c.949 others(66): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0275 | 1 | 302 | 0.0033 | 49 | c.949 others(66): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCCACCCC others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0072a0001c0002t0004a0001c0003t0015others(5): Show | a0001c0001t0072g0161 a0001c0002t0004g0018 a0001c0003t0015g0034 others(5): Show |
8 | 168 | 0.0476 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03579.hp1 NA19240.hp2 |
a0001a0003a0019 | a0001c0011a0003c0046a0019c0025 | a0001c0011t0017a0003c0046t0001a0019c0025t0031 | a0001c0011t0017g0120 a0003c0046t0001g0164 a0019c0025t0031g0025 |
3 | 168 | 0.0179 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03471.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0010others(1): Show | a0001c0003t0052a0001c0005t0023a0001c0010t0027others(2): Show | a0001c0003t0052g0147 a0001c0005t0023g0032 a0001c0010t0027g0105 others(2): Show |
5 | 168 | 0.0298 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510717 | G | GCGACCCC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(99): Show | a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0003g0053 others(117): Show |
120 | 168 | 0.7143 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7510724 | C | CGGGGCTG others(42): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0083 | 1 | 168 | 0.0060 | 49 | c.549 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696353 | T | TATACACA others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01123.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0002t0001g0073 others(4): Show |
7 | 134 | 0.0522 | 49 | c.627 others(68): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696353 | T | TATACACA others(42): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001 | 1 | 134 | 0.0075 | 49 | c.627 others(68): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23603445 | A | AATATATA others(42): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0110 | a0001c0001t0107g0211 a0001c0001t0110g0056 |
2 | 212 | 0.0094 | 49 | c.116 others(66): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22346490 | C | CTTCTTCT others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 142 | 0.0070 | 49 | c.121 others(64): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190318 | A | ATTATATA others(42): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 356 | 0.0028 | 49 | c.-11 others(70): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123015881 | C | CGGATGGG others(42): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0262 a0001c0001t0035g0261 |
2 | 262 | 0.0076 | 49 | c.187 others(70): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102646940 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 128 | 0.0078 | 49 | c.-38 others(60): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3378 | chr7 | TogoVar |