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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCTR_chr2_119434843_119529483 | 119449955 | AGGAAGGA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02280.hp1 others(19): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0001c0001t0004a0011c0015t0002 | a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 others(19): Show |
22 | 290 | 0.0759 | -8 | c.922 others(25): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119450078 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0124 a0001c0001t0001g0222 a0001c0001t0001g0266 others(1): Show |
4 | 290 | 0.0138 | -8 | c.922 others(25): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119450137 | GAAGGAAG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0110 a0001c0001t0001g0165 a0001c0001t0001g0167 others(7): Show |
10 | 290 | 0.0345 | -8 | c.922 others(25): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119460436 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02818.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0165 others(8): Show |
11 | 290 | 0.0379 | -8 | c.790 others(25): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119466764 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0163 others(5): Show |
8 | 290 | 0.0276 | -8 | c.406 others(23): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119492832 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 others(164): Show |
167 | 290 | 0.5759 | -8 | c.193 others(25): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119528940 | TGCCCAGG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0009a0003c0006t0005 | a0001c0001t0001g0167 a0001c0002t0009g0276 a0003c0006t0005g0152 others(1): Show |
4 | 290 | 0.0138 | -8 | c.-47 others(19): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 4458 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192609 | CGTGTATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp1 HG02622.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0011a0001c0006t0015a0001c0006t0086 | a0001c0006t0011g0150 a0001c0006t0011g0198 a0001c0006t0015g0005 others(1): Show |
4 | 280 | 0.0143 | -8 | c.*11 others(21): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4670 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43196565 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
a0001a0004a0013 | a0001c0008a0004c0028a0013c0033 | a0001c0008t0009a0001c0008t0020a0004c0028t0009others(2): Show | a0001c0008t0009g0200 a0001c0008t0009g0248 a0001c0008t0020g0030 others(4): Show |
7 | 280 | 0.0250 | -8 | c.*74 others(19): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 714 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43209980 | GCAGCGAG others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02630.hp2 others(2): Show |
a0004a0007 | a0004c0028a0007c0023a0007c0041 | a0004c0028t0009a0004c0028t0087a0007c0023t0082others(2): Show | a0004c0028t0009g0044 a0004c0028t0087g0273 a0007c0023t0082g0073 others(2): Show |
5 | 280 | 0.0179 | -8 | c.258 others(23): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 19/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281005 | CCTTGGCC others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02056.hp1 HG02080.hp1 others(5): Show |
a0002a0006a0012 | a0002c0002a0002c0005a0006c0015others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0005t0001others(2): Show | a0002c0002t0002g0036 a0002c0002t0002g0106 a0002c0002t0002g0250 others(5): Show |
8 | 280 | 0.0286 | -8 | c.484 others(27): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43323588 | ACATCCAT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(32): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0045others(11): Show | a0001c0003t0003a0001c0004t0027a0001c0045t0003others(18): Show | a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0050 others(32): Show |
35 | 280 | 0.1250 | -8 | c.221 others(25): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 2/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43340481 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00642.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(15): Show | a0001c0003t0003a0001c0003t0006a0001c0004t0004others(26): Show | a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0006g0133 others(37): Show |
40 | 280 | 0.1429 | -8 | c.89- others(23): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43344508 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0006others(21): Show | a0001c0003t0003a0001c0004t0004a0001c0006t0019others(29): Show | a0001c0003t0003g0001 a0001c0003t0003g0037 a0001c0003t0003g0050 others(41): Show |
45 | 280 | 0.1607 | -8 | c.-12 others(19): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1137 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9026423 | CTTTGTTT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0003a0003c0026 | a0001c0002t0009a0001c0002t0013a0003c0003t0009others(2): Show | a0001c0002t0009g0007 a0001c0002t0013g0042 a0001c0002t0013g0061 others(4): Show |
7 | 358 | 0.0196 | -8 | c.270 others(25): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 20/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9045596 | AAGACAGA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01167.hp2 others(23): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0006a0003c0003others(3): Show | a0001c0002t0001a0001c0006t0002a0001c0006t0006others(7): Show | a0001c0002t0001g0019 a0001c0006t0002g0087 a0001c0006t0006g0011 others(23): Show |
26 | 358 | 0.0726 | -8 | c.200 others(27): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9045606 | GACAGACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(126): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0013a0001c0018others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(25): Show | a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0035 others(124): Show |
129 | 358 | 0.3603 | -8 | c.200 others(27): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9051182 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(9): Show | a0001c0002t0001g0049 a0001c0002t0001g0062 a0001c0002t0001g0080 others(25): Show |
28 | 358 | 0.0782 | -8 | c.153 others(25): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 13/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9092715 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01243.hp2 others(10): Show |
a0001a0003a0006 | a0001c0002a0003c0003a0003c0008others(2): Show | a0001c0002t0006a0003c0003t0005a0003c0003t0009others(4): Show | a0001c0002t0006g0021 a0003c0003t0005g0198 a0003c0003t0005g0200 others(10): Show |
13 | 358 | 0.0363 | -8 | c.-11 others(19): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 1117 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65542968 | GGATGGAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01934.hp1 HG03540.hp1 NA18975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0041 |
6 | 278 | 0.0216 | -8 | c.*44 others(19): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 4265 | chr11 | TogoVar | |||||||
SCYL2_chr12_100262177_100346715 | 100320549 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0002t0003a0001c0017t0001 | a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0002t0003g0014 others(4): Show |
7 | 220 | 0.0318 | -8 | c.139 others(27): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL2_chr12_100262177_100346715 | 100320829 | GGGAACAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG01981.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0033 others(10): Show |
13 | 220 | 0.0591 | -8 | c.139 others(27): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDC1_chr2_20195797_20230130 | 20218658 | GACACACG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02257.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0003g0189 others(3): Show |
8 | 412 | 0.0194 | -8 | c.66+ others(23): Show |
SDC1 | ENSG00000115884.11 | transcript | ENST00000254351.9 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SDC1_chr2_20195797_20230130 | 20222088 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(12): Show | a0001c0001t0003g0019 a0001c0001t0004g0058 a0001c0001t0020g0059 others(25): Show |
30 | 412 | 0.0728 | -8 | c.66+ others(23): Show |
SDC1 | ENSG00000115884.11 | transcript | ENST00000254351.9 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SDC1_chr2_20195797_20230130 | 20229807 | GAAAAAGA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02486.hp1 HG02572.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0019 a0001c0001t0004g0058 a0001c0001t0005g0230 others(7): Show |
11 | 412 | 0.0267 | -8 | c.-49 others(19): Show |
SDC1 | ENSG00000115884.11 | transcript | ENST00000254351.9 | protein_coding | 4678 | chr2 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96517771 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0051 others(67): Show |
71 | 334 | 0.2126 | -8 | c.60+ others(25): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96517795 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 others(2): Show |
5 | 334 | 0.0150 | -8 | c.60+ others(25): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96589386 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02809.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016 | a0001c0001t0004g0024 a0001c0001t0005g0217 a0001c0001t0016g0158 |
3 | 334 | 0.0090 | -8 | c.61- others(23): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC4_chr20_45320288_45353424 | 45349386 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00735.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0154 others(17): Show |
27 | 418 | 0.0646 | -8 | c.-10 others(19): Show |
SDC4 | ENSG00000124145.6 | transcript | ENST00000372733.3 | protein_coding | 963 | chr20 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243405923 | TAATAATA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0005c0008t0001 | a0001c0001t0001g0047 a0001c0001t0002g0077 a0005c0008t0001g0128 |
3 | 189 | 0.0159 | -8 | c.161 others(27): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243414845 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0005c0008t0001 | a0001c0001t0001g0047 a0001c0001t0002g0077 a0005c0008t0001g0128 |
3 | 189 | 0.0159 | -8 | c.161 others(25): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDE2_chr1_225977702_226004343 | 225979023 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp2 HG02040.hp1 HG02074.hp2 others(31): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0052 others(14): Show |
34 | 402 | 0.0846 | -8 | c.*62 others(19): Show |
SDE2 | ENSG00000143751.10 | transcript | ENST00000272091.8 | protein_coding | 3678 | chr1 | TogoVar | |||||||
SDHAF1_chr19_35990188_36001312 | 35994699 | TAATAAAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(1): Show |
59 | 392 | 0.1505 | -8 | c.-57 others(17): Show |
SDHAF1 | ENSG00000205138.4 | transcript | ENST00000378887.4 | protein_coding | 488 | chr19 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97129160 | TATTTATG others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(4): Show |
7 | 402 | 0.0174 | -8 | c.174 others(27): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97135637 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show |
4 | 402 | 0.0100 | -8 | c.174 others(27): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHB_chr1_17013722_17059032 | 17013774 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01516.hp1 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 others(4): Show |
7 | 368 | 0.0190 | -8 | c.*50 others(19): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 4947 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161311398 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01361.hp1 HG01515.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0039 others(10): Show |
13 | 330 | 0.0394 | -8 | c.-30 others(19): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 2982 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161354663 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0185 a0001c0001t0001g0198 others(11): Show |
16 | 330 | 0.0485 | -8 | c.242 others(25): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3299226 | CTTTATTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03225.hp1 NA20129.hp1 others(1): Show |
a0001a0005a0006 | a0001c0037a0001c0088a0005c0065others(1): Show | a0001c0037t0002a0001c0088t0009a0005c0065t0037others(1): Show | a0001c0037t0002g0077 a0001c0088t0009g0048 a0005c0065t0037g0065 others(1): Show |
4 | 116 | 0.0345 | -8 | c.-23 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 2025 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3305806 | ATAGCCAC others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01243.hp1 others(27): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0008a0001c0011others(24): Show | a0001c0002t0040a0001c0008t0007a0001c0011t0039others(24): Show | a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 others(27): Show |
30 | 116 | 0.2586 | -8 | c.298 others(25): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3321778 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG03491.hp2 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0030a0003c0047a0004c0003others(1): Show | a0002c0030t0034a0003c0047t0038a0004c0003t0003others(1): Show | a0002c0030t0034g0083 a0003c0047t0038g0082 a0004c0003t0003g0071 others(1): Show |
4 | 116 | 0.0345 | -8 | c.298 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3466979 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG02145.hp2 HG03471.hp2 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0092a0003c0001a0004c0080others(2): Show | a0001c0092t0048a0003c0001t0063a0004c0080t0014others(2): Show | a0001c0092t0048g0057 a0003c0001t0063g0032 a0004c0080t0014g0078 others(2): Show |
5 | 116 | 0.0431 | -8 | c.299 others(29): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3655448 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp1 |
a0002a0025 | a0002c0066a0025c0081 | a0002c0066t0023a0025c0081t0008 | a0002c0066t0023g0089 a0025c0081t0008g0075 |
2 | 116 | 0.0172 | -8 | c.713 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3662041 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02965.hp1 others(4): Show |
a0009a0015a0024others(3): Show | a0009c0019a0009c0020a0015c0074others(4): Show | a0009c0019t0074a0009c0020t0070a0015c0074t0042others(4): Show | a0009c0019t0074g0009 a0009c0020t0070g0008 a0015c0074t0042g0081 others(4): Show |
7 | 116 | 0.0603 | -8 | c.713 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3687056 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA19030.hp2 |
a0001a0033 | a0001c0011a0033c0051 | a0001c0011t0039a0033c0051t0062 | a0001c0011t0039g0061 a0033c0051t0062g0019 |
2 | 116 | 0.0172 | -8 | c.713 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3701924 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0048a0001c0049a0001c0071others(6): Show | a0001c0048t0001a0001c0049t0036a0001c0071t0057others(6): Show | a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 others(6): Show |
9 | 116 | 0.0776 | -8 | c.713 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3769936 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02622.hp1 others(5): Show |
a0001a0005a0025 | a0001c0017a0001c0048a0001c0071others(4): Show | a0001c0017t0011a0001c0048t0001a0001c0071t0057others(4): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0048t0001g0029 others(5): Show |
8 | 116 | 0.0690 | -8 | c.714 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3797458 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp1 others(20): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0001c0005others(17): Show | a0001c0002t0004a0001c0002t0040a0001c0004t0005others(20): Show | a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0004t0005g0102 others(20): Show |
23 | 116 | 0.1983 | -8 | c.714 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3884083 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp1 others(26): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0005others(22): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0005others(25): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0004t0005g0102 others(26): Show |
29 | 116 | 0.2500 | -8 | c.847 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3945964 | AAAAAAAG others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0007others(25): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(29): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(29): Show |
32 | 116 | 0.2759 | -8 | c.848 others(25): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |