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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L1CAM_chrX_153856516_153891173 | 153859495 | G | GGAAGGAA | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0045 others(2): Show |
6 | 283 | 0.0212 | 7 | c.*31 others(18): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2020 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860467 | T | TTTCTTTC | downstream_gene_variant | MODIFIER | NA18970.hp1 NA19077.hp1 |
a0001a0017 | a0001c0001a0017c0015 | a0001c0001t0001a0017c0015t0001 | a0001c0001t0001g0065 a0017c0015t0001g0117 |
2 | 283 | 0.0071 | 7 | c.*21 others(18): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1048 | chrX | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62192650 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01515.hp2 others(4): Show |
a0005a0006a0015others(1): Show | a0005c0012a0006c0014a0015c0036others(1): Show | a0005c0012t0001a0006c0014t0011a0006c0014t0026others(2): Show | a0005c0012t0001g0038 a0006c0014t0011g0006 a0006c0014t0011g0354 others(4): Show |
7 | 414 | 0.0169 | 7 | c.-24 others(18): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2198 | chr1 | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62208481 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0004a0008 | a0004c0015a0008c0009 | a0004c0015t0031a0008c0009t0010a0008c0009t0024 | a0004c0015t0031g0049 a0008c0009t0010g0100 a0008c0009t0010g0103 others(4): Show |
7 | 414 | 0.0169 | 7 | c.100 others(24): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L2HGDH_chr14_50237434_50317229 | 50241406 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(19): Show | a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0017 others(63): Show |
67 | 360 | 0.1861 | 7 | c.*56 others(18): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 1027 | chr14 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6004997 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01099.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0026 a0001c0001t0003g0011 a0001c0001t0004g0007 others(7): Show |
10 | 94 | 0.1064 | 7 | c.144 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA | intron_variant | MODIFIER | HG01952.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0004t0006others(1): Show | a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show |
8 | 94 | 0.0851 | 7 | c.144 others(26): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6095346 | G | GTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01981.hp1 HG01981.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0033 others(8): Show |
11 | 94 | 0.1170 | 7 | c.120 others(26): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6121616 | A | AAGCAGAC | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02818.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0033 a0001c0001t0004g0076 a0001c0001t0005g0057 others(8): Show |
11 | 94 | 0.1170 | 7 | c.119 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6144196 | C | CAAAAAAA | intron_variant | MODIFIER | HG03225.hp2 HG03834.hp2 HG04115.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0003a0001c0008t0009a0002c0002t0001 | a0001c0001t0003g0010 a0001c0001t0003g0069 a0001c0008t0009g0009 others(1): Show |
4 | 94 | 0.0426 | 7 | c.109 others(26): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 13/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6290530 | T | TATTTTTA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00673.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 others(18): Show |
21 | 94 | 0.2234 | 7 | c.127 others(26): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70652901 | A | ATGATAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(277): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(175): Show |
280 | 352 | 0.7955 | 7 | c.413 others(24): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70669639 | T | TGTGTGTG | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03209.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0217 a0001c0001t0001g0218 others(3): Show |
7 | 352 | 0.0199 | 7 | c.-52 others(16): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 455 | chr8 | TogoVar | |||||||
LACTB_chr15_63116861_63147061 | 63118932 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0022others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0022t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(17): Show |
31 | 416 | 0.0745 | 7 | c.-29 others(18): Show |
LACTB | ENSG00000103642.12 | transcript | ENST00000261893.9 | protein_coding | 2928 | chr15 | TogoVar | |||||||
LAG3_chr12_6767520_6783455 | 6767598 | C | CGGGGGGG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01168.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(18): Show |
26 | 472 | 0.0551 | 7 | c.-52 others(18): Show |
LAG3 | ENSG00000089692.9 | transcript | ENST00000203629.3 | protein_coding | 4921 | chr12 | TogoVar | |||||||
LALBA_chr12_48562684_48575046 | 48571386 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(10): Show |
262 | 452 | 0.5797 | 7 | c.-13 others(18): Show |
LALBA | ENSG00000167531.6 | transcript | ENST00000301046.6 | protein_coding | 1341 | chr12 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7053780 | A | ATTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(9): Show |
a0003a0004a0008others(6): Show | a0003c0135a0003c0153a0004c0010others(8): Show | a0003c0135t0003a0003c0153t0001a0004c0010t0001others(8): Show | a0003c0135t0003g0129 a0003c0153t0001g0191 a0004c0010t0001g0264 others(9): Show |
12 | 278 | 0.0432 | 7 | c.346 others(24): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 3/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7065250 | A | AAAAAAAC | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02717.hp1 others(8): Show |
a0028a0061a0069others(8): Show | a0028c0009a0061c0035a0069c0039others(8): Show | a0028c0009t0002a0061c0035t0006a0069c0039t0001others(8): Show | a0028c0009t0002g0008 a0061c0035t0006g0241 a0069c0039t0001g0169 others(8): Show |
11 | 278 | 0.0396 | 7 | c.346 others(26): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 3/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7100386 | C | CAGACACT | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01884.hp2 others(13): Show |
a0001a0003a0008others(7): Show | a0001c0001a0001c0002a0003c0107others(12): Show | a0001c0001t0002a0001c0002t0001a0003c0107t0001others(12): Show | a0001c0001t0002g0101 a0001c0002t0001g0144 a0003c0107t0001g0261 others(13): Show |
16 | 278 | 0.0576 | 7 | c.61+ others(24): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128921704 | T | TTTTTTTG | intron_variant | MODIFIER | HG00140.hp1 HG02451.hp1 HG02559.hp1 others(6): Show |
a0003a0004a0005others(4): Show | a0003c0018a0004c0027a0004c0031others(5): Show | a0003c0018t0001a0004c0027t0001a0004c0031t0002others(5): Show | a0003c0018t0001g0032 a0004c0027t0001g0002 a0004c0031t0002g0005 others(6): Show |
9 | 88 | 0.1023 | 7 | c.112 others(26): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128965979 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG02559.hp1 HG02965.hp1 others(2): Show |
a0001a0004a0020others(1): Show | a0001c0011a0004c0027a0004c0031others(2): Show | a0001c0011t0002a0004c0027t0001a0004c0031t0002others(2): Show | a0001c0011t0002g0003 a0004c0027t0001g0002 a0004c0031t0002g0005 others(2): Show |
5 | 88 | 0.0568 | 7 | c.112 others(26): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128993542 | G | GCCTGTAT | intron_variant | MODIFIER | HG02895.hp1 HG03130.hp2 HG03486.hp1 |
a0004a0014a0027 | a0004c0002a0014c0010a0027c0053 | a0004c0002t0002a0014c0010t0003a0027c0053t0003 | a0004c0002t0002g0083 a0014c0010t0003g0054 a0027c0053t0003g0079 |
3 | 88 | 0.0341 | 7 | c.113 others(26): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129106875 | A | ATATATAT | intron_variant | MODIFIER | HG00609.hp1 NA18747.hp1 NA18946.hp1 others(3): Show |
a0001a0004a0006others(2): Show | a0001c0067a0001c0068a0004c0063others(3): Show | a0001c0067t0001a0001c0068t0003a0004c0063t0001others(3): Show | a0001c0067t0001g0073 a0001c0068t0003g0069 a0004c0063t0001g0075 others(3): Show |
6 | 88 | 0.0682 | 7 | c.639 others(24): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 4/64 | chr6 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23959491 | C | CCCCCCCA | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02071.hp1 HG03540.hp1 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0002g0163 a0001c0001t0002g0187 a0001c0001t0002g0213 others(14): Show |
17 | 280 | 0.0607 | 7 | c.*48 others(18): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 4426 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23959497 | A | ACCCCCCC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01891.hp1 HG02145.hp1 others(11): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0002g0178 a0001c0001t0007g0166 a0001c0002t0001g0060 others(11): Show |
14 | 280 | 0.0500 | 7 | c.*48 others(18): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 4432 | chr18 | TogoVar | |||||||
LAMA3_chr18_23868020_23960066 | 23959491 | C | CCCCCCCA | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02071.hp2 HG03540.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0166 a0001c0001t0001g0171 others(13): Show |
16 | 334 | 0.0479 | 7 | c.*48 others(18): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 4426 | chr18 | TogoVar | |||||||
LAMA3_chr18_23868020_23960066 | 23959497 | A | ACCCCCCC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01891.hp1 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0163 others(13): Show |
16 | 334 | 0.0479 | 7 | c.*48 others(18): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 4432 | chr18 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62317895 | A | AGGAGGGG | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(33): Show |
a0002a0004a0012others(23): Show | a0002c0003a0002c0017a0002c0083others(26): Show | a0002c0003t0001a0002c0017t0001a0002c0083t0001others(26): Show | a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0137 others(33): Show |
36 | 186 | 0.1936 | 7 | c.724 others(24): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62332926 | T | TGCAGGAG | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp2 others(3): Show |
a0004a0044a0052others(3): Show | a0004c0146a0044c0049a0052c0033others(3): Show | a0004c0146t0001a0044c0049t0001a0052c0033t0001others(3): Show | a0004c0146t0001g0052 a0044c0049t0001g0060 a0052c0033t0001g0181 others(3): Show |
6 | 186 | 0.0323 | 7 | c.328 others(24): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 26/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62334730 | G | GTCAGGGC | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00741.hp2 others(21): Show |
a0006a0010a0014others(17): Show | a0006c0012a0010c0006a0014c0011others(17): Show | a0006c0012t0001a0010c0006t0001a0014c0011t0003others(17): Show | a0006c0012t0001g0170 a0006c0012t0001g0176 a0010c0006t0001g0114 others(21): Show |
24 | 186 | 0.1290 | 7 | c.248 others(24): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 20/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62341572 | G | GTCACCAC | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02976.hp2 |
a0017a0085 | a0017c0139a0017c0148a0085c0140 | a0017c0139t0001a0017c0148t0001a0085c0140t0001 | a0017c0139t0001g0065 a0017c0148t0001g0064 a0085c0140t0001g0066 |
3 | 186 | 0.0161 | 7 | c.147 others(26): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 11/79 | chr20 | TogoVar | |||||||
LAMB3_chr1_209609870_209657425 | 209645722 | G | GAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01496.hp2 HG02300.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0019a0003c0001others(1): Show | a0001c0002t0001a0002c0019t0002a0003c0001t0001others(1): Show | a0001c0002t0001g0097 a0002c0019t0002g0078 a0003c0001t0001g0074 others(5): Show |
8 | 444 | 0.0180 | 7 | c.183 others(24): Show |
LAMB3 | ENSG00000196878.15 | transcript | ENST00000356082.9 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108126554 | C | CCTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 NA19030.hp2 |
a0006a0023 | a0006c0016a0023c0021 | a0006c0016t0001a0023c0021t0002 | a0006c0016t0001g0083 a0023c0021t0002g0098 a0023c0021t0002g0099 |
3 | 292 | 0.0103 | 7 | c.-33 others(24): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 1/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108126554 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(50): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0066others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(19): Show | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 others(50): Show |
53 | 292 | 0.1815 | 7 | c.-33 others(24): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 1/33 | chr7 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131063155 | G | GCAGCCAA | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG03130.hp1 |
a0026a0027a0068 | a0026c0216a0027c0226a0068c0209 | a0026c0216t0004a0027c0226t0007a0068c0209t0007 | a0026c0216t0004g0037 a0027c0226t0007g0041 a0068c0209t0007g0359 |
3 | 360 | 0.0083 | 7 | c.234 others(26): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113306834 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(147): Show |
a0001a0007a0009 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(135): Show |
150 | 354 | 0.4237 | 7 | c.183 others(22): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP2_chrX_120421148_120474296 | 120438731 | C | CACACAAA | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 297 | 0.0034 | 7 | c.109 others(26): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
LAMP2_chrX_120421148_120474296 | 120438731 | C | CACACACA | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 297 | 0.0034 | 7 | c.109 others(26): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
LAMP2_chrX_120421148_120474296 | 120438732 | A | ACACACAC | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 297 | 0.0034 | 7 | c.109 others(26): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183164314 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01074.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0232 a0001c0003t0001g0281 a0001c0003t0002g0012 others(33): Show |
37 | 372 | 0.0995 | 7 | c.-16 others(18): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 1581 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9509997 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0002c0002t0002 | a0001c0001t0003g0038 a0001c0001t0003g0176 a0001c0001t0003g0177 others(8): Show |
12 | 448 | 0.0268 | 7 | c.-48 others(18): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4592 | chr20 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17572246 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(48): Show |
51 | 300 | 0.1700 | 7 | c.-52 others(18): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 4951 | chr4 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17593609 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0010others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(117): Show |
132 | 300 | 0.4400 | 7 | c.864 others(24): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97781278 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00639.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 others(74): Show |
77 | 380 | 0.2026 | 7 | c.99+ others(22): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33339399 | C | CCTCTCAG | intron_variant | MODIFIER | HG02717.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0053 |
2 | 110 | 0.0182 | 7 | c.113 others(26): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33387102 | T | TCAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0001a0001c0006t0029a0002c0005t0008 | a0001c0001t0001g0044 a0001c0006t0029g0108 a0002c0005t0008g0014 |
3 | 110 | 0.0273 | 7 | c.893 others(24): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33395226 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00735.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 others(16): Show |
19 | 110 | 0.1727 | 7 | c.893 others(26): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33568766 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00741.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(9): Show | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 others(17): Show |
20 | 110 | 0.1818 | 7 | c.616 others(24): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 5/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33642710 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 HG03098.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0022a0001c0003t0009a0001c0007t0010others(1): Show | a0001c0002t0022g0103 a0001c0003t0009g0016 a0001c0007t0010g0006 others(1): Show |
4 | 110 | 0.0364 | 7 | c.408 others(24): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 3/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33697549 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0043 others(35): Show |
38 | 110 | 0.3455 | 7 | c.107 others(26): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar |