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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKI_chr1_2223319_2315213 | 2281807 | GAGAGAGG others(34): Show |
G | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 330 | 0.0030 | -41 | c.970 others(60): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281936 | GAGAGAGG others(34): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 330 | 0.0030 | -41 | c.970 others(60): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2282152 | GAGAGAGG others(34): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 330 | 0.0030 | -41 | c.970 others(60): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(141): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0131others(84): Show | 144 | 376 | 0.3830 | -41 | c.177 others(58): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072135 | GAGCCCCC others(34): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0019 | a0006c0019t0009 | a0006c0019t0009g0013 | 1 | 118 | 0.0085 | -41 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072232 | CCCCCAGT others(34): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 1 | 118 | 0.0085 | -41 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072556 | GCCCCAGT others(34): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 118 | 0.0085 | -41 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072687 | CATCACAC others(34): Show |
C | intron_variant | MODIFIER | HG02698.hp2 NA18954.hp2 |
a0001a0002 | a0001c0013a0002c0004 | a0001c0013t0003a0002c0004t0022 | a0001c0013t0003g0046a0002c0004t0022g0087 | 2 | 118 | 0.0170 | -41 | c.224 others(58): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072781 | CATCACAC others(34): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0039a0001c0001t0001g0051others(1): Show | 4 | 118 | 0.0339 | -41 | c.224 others(58): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC15A5_chr12_16183485_16282685 | 16205539 | TATATATG others(34): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 HG03831.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0134a0002c0002t0005g0135a0002c0002t0005g0190 | 3 | 324 | 0.0093 | -41 | c.148 others(62): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
SLC15A5_chr12_16183485_16282685 | 16205557 | TATTCCAT others(34): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 324 | 0.0031 | -41 | c.148 others(62): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
SLC16A13_chr17_7031015_7045117 | 7043207 | CCGGTTGC others(34): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -41 | c.*32 others(52): Show |
SLC16A13 | ENSG00000174327.7 | transcript | ENST00000308027.7 | protein_coding | 3091 | chr17 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3439035 | AGACCGGG others(34): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0005g0031a0001c0001t0007g0087a0001c0001t0010g0141others(2): Show | 5 | 222 | 0.0225 | -41 | c.654 others(60): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
SLC26A4_chr7_107655828_107722809 | 107680277 | AATATAAT others(34): Show |
A | intron_variant | MODIFIER | NA18941.hp1 NA18946.hp1 NA18970.hp2 others(1): Show |
a0001a0015 | a0001c0001a0015c0014 | a0001c0001t0001a0015c0014t0001 | a0001c0001t0001g0032a0001c0001t0001g0052a0001c0001t0001g0053others(1): Show | 4 | 366 | 0.0109 | -41 | c.766 others(58): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SLC28A1_chr15_84879662_84950798 | 84907700 | TATAAATC others(34): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0009 | a0009c0057 | a0009c0057t0001 | a0009c0057t0001g0393 | 1 | 396 | 0.0025 | -41 | c.718 others(57): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC2A4RG_chr20_63734776_63749050 | 63747425 | GGGGGCAG others(34): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03098.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0006a0001c0003t0015 | a0001c0001t0005g0006a0001c0001t0006g0027a0001c0003t0015g0004 | 3 | 416 | 0.0072 | -41 | c.*44 others(52): Show |
SLC2A4RG | ENSG00000125520.14 | transcript | ENST00000266077.5 | protein_coding | 3376 | chr20 | TogoVar | ||||||
SLC2A8_chr9_127392169_127412898 | 127409324 | AAGATGAT others(34): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 418 | 0.0024 | -41 | c.*20 others(52): Show |
SLC2A8 | ENSG00000136856.18 | transcript | ENST00000373371.8 | protein_coding | 1427 | chr9 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9926240 | CTCACTAA others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(41): Show |
a0001a0004a0010 | a0001c0001a0001c0013a0004c0002others(1): Show | a0001c0001t0001a0001c0013t0001a0004c0002t0001others(1): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0145others(41): Show | 44 | 336 | 0.1310 | -41 | c.815 others(58): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9926245 | TAATGCAA others(34): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0036a0002c0015others(13): Show | a0001c0001t0001a0001c0036t0001a0002c0015t0001others(13): Show | a0001c0001t0001g0182a0001c0001t0001g0246a0001c0036t0001g0266others(128): Show | 131 | 336 | 0.3899 | -41 | c.815 others(58): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234108433 | GATATATA others(34): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0063 | 2 | 158 | 0.0127 | -41 | c.284 others(62): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC35G3_chr17_35187520_35199393 | 35190391 | CAACAGAA others(34): Show |
C | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 478 | 0.0021 | -41 | c.*28 others(52): Show |
SLC35G3 | ENSG00000164729.8 | transcript | ENST00000297307.7 | protein_coding | 2128 | chr17 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140362872 | CCGGCCAG others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(178): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0004a0001c0001t0001g0116a0001c0001t0001g0125others(174): Show | 181 | 346 | 0.5231 | -41 | c.375 others(58): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 5/14 | chr7 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 72900136 | AAGAAAAA others(34): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0009 | a0004c0009t0006 | a0004c0009t0006g0151 | 1 | 180 | 0.0056 | -41 | c.430 others(60): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SLC3A1_chr2_44270480_44326494 | 44317667 | TATTTTCA others(34): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0291 | 1 | 354 | 0.0028 | -41 | c.161 others(60): Show |
SLC3A1 | ENSG00000138079.14 | transcript | ENST00000260649.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC43A3_chr11_57401954_57432121 | 57403465 | GAAGAAGA others(34): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02165.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(3): Show | 8 | 330 | 0.0242 | -41 | c.*42 others(52): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3488 | chr11 | TogoVar | ||||||
SLC43A3_chr11_57401954_57432121 | 57403473 | AGAAGAGG others(34): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01071.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0028others(2): Show | 5 | 330 | 0.0152 | -41 | c.*42 others(52): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3480 | chr11 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203432 | GGAGAGAG others(34): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG03239.hp1 |
a0001a0003 | a0001c0018a0003c0002 | a0001c0018t0021a0003c0002t0002 | a0001c0018t0021g0104a0003c0002t0002g0108 | 2 | 188 | 0.0106 | -41 | c.*80 others(52): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3741 | chr8 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79921801 | GACAGGAA others(34): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0050others(18): Show | 22 | 352 | 0.0625 | -41 | c.392 others(58): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79942018 | GGGAACAT others(34): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0213 | 1 | 352 | 0.0028 | -41 | c.337 others(58): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
SLC6A13_chr12_215622_267836 | 239141 | CATGCTCT others(34): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 442 | 0.0023 | -41 | c.479 others(58): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4/14 | chr12 | TogoVar | ||||||
SLC6A6_chr3_14397606_14494349 | 14436531 | CTTTTTTT others(34): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0068a0001c0001t0001g0077others(78): Show | 82 | 376 | 0.2181 | -41 | c.-11 others(58): Show |
SLC6A6 | ENSG00000131389.18 | transcript | ENST00000622186.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC7A1_chr13_29504414_29600688 | 29559049 | AGGGGGAG others(34): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0024others(1): Show | a0001c0001t0001g0232a0001c0001t0001g0267a0001c0001t0001g0268others(4): Show | 7 | 330 | 0.0212 | -41 | c.-11 others(60): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29559057 | AGAATGTG others(34): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02165.hp2 HG04115.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0006a0001c0001t0003g0146a0001c0002t0002g0083others(3): Show | 7 | 330 | 0.0212 | -41 | c.-11 others(60): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29559218 | TGAATGTG others(34): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 330 | 0.0030 | -41 | c.-11 others(60): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29559231 | CGGGGAGT others(34): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 330 | 0.0030 | -41 | c.-11 others(60): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29559431 | AGGGGGAG others(34): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01167.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0002a0001c0002t0007 | a0001c0001t0044g0224a0001c0002t0002g0140a0001c0002t0002g0313others(3): Show | 6 | 330 | 0.0182 | -41 | c.-11 others(60): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 505529 | AGAGTGAC others(34): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0017 | 1 | 218 | 0.0046 | -41 | c.212 others(60): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 505540 | GGGGGTGG others(34): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 218 | 0.0046 | -41 | c.212 others(60): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143449782 | TATATAAT others(34): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 108 | 0.0093 | -41 | c.146 others(62): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92016213 | ATAGATAG others(34): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0046a0001c0001t0016g0119 | 2 | 190 | 0.0105 | -41 | c.647 others(60): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLFN12L_chr17_35459254_35542678 | 35530402 | GAAGGAAG others(34): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03453.hp2 |
a0001a0006 | a0001c0002a0006c0008 | a0001c0002t0045a0006c0008t0147 | a0001c0002t0045g0165a0001c0002t0045g0166a0006c0008t0147g0167 | 3 | 360 | 0.0083 | -41 | c.-60 others(60): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35530410 | GAAGGAAG others(34): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0123 | 1 | 360 | 0.0028 | -41 | c.-60 others(60): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35530430 | GGAAGGGA others(34): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0271 | 1 | 360 | 0.0028 | -41 | c.-60 others(60): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291468 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 230 | 0.0044 | -41 | c.395 others(60): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168590247 | CGGTCTGG others(34): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0006a0001c0002t0005a0001c0007t0005 | a0001c0001t0006g0160a0001c0002t0005g0069a0001c0007t0005g0050 | 3 | 180 | 0.0167 | -41 | c.638 others(58): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168653613 | TCCTGAGC others(34): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0002 | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0132others(9): Show | 12 | 180 | 0.0667 | -41 | c.128 others(58): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168654268 | CTCCTGAG others(34): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0005a0001c0004t0005 | a0001c0001t0006g0128a0001c0001t0006g0160a0001c0002t0005g0069others(3): Show | 6 | 180 | 0.0333 | -41 | c.128 others(60): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168654390 | CTACCTGA others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004 | a0001c0001t0001g0142a0001c0001t0004g0118a0001c0001t0004g0122others(4): Show | 7 | 180 | 0.0389 | -41 | c.128 others(60): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12476380 | AAAAATAT others(34): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0124 | 1 | 176 | 0.0057 | -41 | c.203 others(60): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33577661 | ACACACAC others(34): Show |
A | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 364 | 0.0028 | -41 | c.*12 others(52): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 181 | chr21 | TogoVar |