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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LINGO2_chr9_27932617_29218601 | 28769496 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0042 | 1 | 62 | 0.0161 | -36 | c.-39 others(57): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28884954 | TAATATTT others(29): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0021 | 1 | 62 | 0.0161 | -36 | c.-39 others(57): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 29189066 | CCCCACCT others(29): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 62 | 0.0161 | -36 | c.-49 others(57): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
LIPC_chr15_58426991_58574844 | 58523846 | GATCGCTT others(29): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03654.hp1 others(1): Show |
a0001a0003 | a0001c0005a0003c0011 | a0001c0005t0003a0003c0011t0001 | a0001c0005t0003g0135a0003c0011t0001g0062a0003c0011t0001g0063others(1): Show | 4 | 358 | 0.0112 | -36 | c.89- others(53): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
LIPC_chr15_58426991_58574844 | 58567281 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp1 HG02717.hp1 others(3): Show |
a0001a0002a0005 | a0001c0003a0002c0006a0002c0012others(2): Show | a0001c0003t0002a0002c0006t0002a0002c0012t0002others(2): Show | a0001c0003t0002g0140a0002c0006t0002g0188a0002c0006t0002g0231others(3): Show | 6 | 358 | 0.0168 | -36 | c.138 others(55): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LIPC_chr15_58426991_58574844 | 58567294 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0006 | a0006c0041 | a0006c0041t0011 | a0006c0041t0011g0321 | 1 | 358 | 0.0028 | -36 | c.138 others(55): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LIPC_chr15_58426991_58574844 | 58567309 | ATATATGT others(29): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0174 | 1 | 358 | 0.0028 | -36 | c.138 others(55): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579001 | GGGGAGAG others(29): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0180 | 1 | 384 | 0.0026 | -36 | c.794 others(53): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPH_chr3_185501262_185557588 | 185512965 | GAAATGGT others(29): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0145 | 1 | 358 | 0.0028 | -36 | c.109 others(55): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
LIPI_chr21_14103813_14215955 | 14106190 | AAAAAAAA others(29): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 HG02735.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0002a0003c0005t0002 | a0002c0002t0002g0169a0003c0005t0002g0277 | 2 | 362 | 0.0055 | -36 | c.*27 others(47): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2622 | chr21 | TogoVar | ||||||
LIPI_chr21_14103813_14215955 | 14106192 | AAAAAAAA others(29): Show |
A | downstream_gene_variant | MODIFIER | HG02300.hp2 HG03669.hp2 NA18951.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0015a0003c0005t0002g0278a0003c0005t0002g0288others(2): Show | 5 | 362 | 0.0138 | -36 | c.*27 others(47): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2620 | chr21 | TogoVar | ||||||
LIPI_chr21_14103813_14215955 | 14106194 | AAAAAAAA others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0286 | 1 | 362 | 0.0028 | -36 | c.*27 others(47): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2618 | chr21 | TogoVar | ||||||
LIPN_chr10_88755020_88784626 | 88761743 | CTATCTAT others(29): Show |
C | intron_variant | MODIFIER | HG02148.hp1 NA18747.hp1 NA18992.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0001c0003t0008a0002c0006t0001 | a0001c0003t0001g0212a0001c0003t0008g0209a0001c0003t0008g0210others(2): Show | 5 | 394 | 0.0127 | -36 | c.108 others(51): Show |
LIPN | ENSG00000204020.6 | transcript | ENST00000404459.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LIPT1_chr2_99149967_99168137 | 99161269 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0144a0001c0001t0001g0158 | 4 | 406 | 0.0099 | -36 | c.-1- others(49): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LIPT1_chr2_99149967_99168137 | 99161271 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(4): Show | 40 | 406 | 0.0985 | -36 | c.-1- others(49): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LIPT1_chr2_99149967_99168137 | 99161273 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02602.hp2 NA18951.hp1 NA18955.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0040a0001c0001t0001g0198 | 7 | 406 | 0.0172 | -36 | c.-1- others(49): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LIPT1_chr2_99149967_99168137 | 99161275 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 2 | 406 | 0.0049 | -36 | c.-1- others(49): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LMAN2_chr5_177326567_177356668 | 177326841 | GAAAGAAA others(29): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0042 | 1 | 376 | 0.0027 | -36 | c.*52 others(47): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4725 | chr5 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326845 | GAAAGAAA others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0209 | 2 | 376 | 0.0053 | -36 | c.*52 others(47): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4721 | chr5 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326849 | GAAAGAAA others(29): Show |
G | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 376 | 0.0027 | -36 | c.*52 others(47): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4717 | chr5 | TogoVar | ||||||
LMBR1_chr7_156672791_156898183 | 156863231 | AGTCTGAG others(29): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02683.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0162a0001c0005t0163others(2): Show | a0001c0005t0010g0066a0001c0005t0162g0063a0001c0005t0163g0065others(2): Show | 5 | 314 | 0.0159 | -36 | c.67- others(53): Show |
LMBR1 | ENSG00000105983.23 | transcript | ENST00000353442.10 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 960854 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG03225.hp2 |
a0001a0003 | a0001c0020a0003c0009 | a0001c0020t0001a0003c0009t0001 | a0001c0020t0001g0100a0003c0009t0001g0001a0003c0009t0001g0007 | 3 | 294 | 0.0102 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961078 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0127 | 1 | 294 | 0.0034 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961264 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02109.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0006a0001c0012others(5): Show | a0001c0002t0001a0001c0002t0006a0001c0006t0001others(7): Show | a0001c0002t0001g0039a0001c0002t0001g0086a0001c0002t0006g0050others(13): Show | 16 | 294 | 0.0544 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961528 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00621.hp2 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0005others(18): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(23): Show | a0001c0002t0001g0021a0001c0002t0001g0026a0001c0002t0001g0027others(70): Show | 73 | 294 | 0.2483 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961792 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01123.hp2 others(19): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0004a0001c0006others(9): Show | a0001c0002t0001a0001c0004t0005a0001c0006t0001others(10): Show | a0001c0002t0001g0033a0001c0002t0001g0039a0001c0002t0001g0040others(19): Show | 22 | 294 | 0.0748 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961980 | CACAGACT others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01069.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0004others(14): Show | a0001c0001t0002g0266a0001c0002t0001g0033a0001c0002t0001g0039others(27): Show | 30 | 294 | 0.1020 | -36 | c.194 others(53): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LMNB2_chr19_2423166_2461959 | 2457616 | GGCTCTTA others(29): Show |
G | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 356 | 0.0028 | -36 | c.-71 others(45): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 658 | chr19 | TogoVar | ||||||
LMNTD1_chr12_25471082_25558283 | 25527651 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02027.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0162a0001c0004t0001g0165a0001c0004t0001g0166others(2): Show | 5 | 388 | 0.0129 | -36 | c.492 others(51): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
LMNTD1_chr12_25471082_25558283 | 25527653 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp1 others(63): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0007a0001c0015others(3): Show | a0001c0001t0002a0001c0007t0003a0001c0007t0004others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0055others(61): Show | 66 | 388 | 0.1701 | -36 | c.492 others(51): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
LMO3_chr12_16543372_16611162 | 16565983 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 354 | 0.0028 | -36 | c.207 others(53): Show |
LMO3 | ENSG00000048540.16 | transcript | ENST00000537304.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75655637 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 |
a0004a0015 | a0004c0004a0015c0029 | a0004c0004t0010a0015c0029t0001 | a0004c0004t0010g0119a0015c0029t0001g0118 | 2 | 272 | 0.0074 | -36 | c.69+ others(53): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LMOD1_chr1_201891456_201951548 | 201901530 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0075others(12): Show | 16 | 400 | 0.0400 | -36 | c.262 others(51): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201901560 | ATATGTAT others(29): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 400 | 0.0025 | -36 | c.262 others(51): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201924421 | AAGGGAAG others(29): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00735.hp2 others(59): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0069a0001c0001t0001g0070others(59): Show | 62 | 400 | 0.1550 | -36 | c.261 others(55): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201924665 | AAAAGAAA others(29): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG03942.hp2 HG06807.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001a0002c0002t0002g0024a0002c0002t0002g0121 | 4 | 400 | 0.0100 | -36 | c.261 others(55): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140160 | TTCTTTTC others(29): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG03704.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0010a0002c0002t0050 | a0002c0002t0003g0019a0002c0002t0003g0029a0002c0002t0003g0330others(2): Show | 5 | 390 | 0.0128 | -36 | c.232 others(53): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LMTK3_chr19_48480271_48516835 | 48482789 | AAGTCCAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02922.hp1 others(6): Show |
a0000a0001a0002 | a0000c0001a0001c0002a0002c0003 | a0000c0001t0001a0000c0001t0002a0001c0002t0001others(1): Show | a0000c0001t0001g0043a0000c0001t0001g0044a0000c0001t0001g0046others(6): Show | 9 | 314 | 0.0287 | -36 | c.*29 others(47): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 2481 | chr19 | TogoVar | ||||||
LMX1B_chr9_126608928_126706032 | 126661219 | TCAGGCCA others(29): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(29): Show | a0001c0001t0002g0317a0001c0001t0008g0030a0001c0001t0008g0051others(63): Show | 66 | 342 | 0.1930 | -36 | c.327 others(55): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LNP1_chr3_100396539_100461319 | 100431990 | GTTTATAT others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0034others(59): Show | 65 | 398 | 0.1633 | -36 | c.156 others(53): Show |
LNP1 | ENSG00000206535.8 | transcript | ENST00000383693.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LNP1_chr3_100396539_100461319 | 100431992 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0286 | 1 | 398 | 0.0025 | -36 | c.156 others(53): Show |
LNP1 | ENSG00000206535.8 | transcript | ENST00000383693.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LNX2_chr13_27540913_27625529 | 27583169 | AGTGTGTG others(29): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0020 | 1 | 358 | 0.0028 | -36 | c.-10 others(55): Show |
LNX2 | ENSG00000139517.9 | transcript | ENST00000316334.5 | protein_coding | 1/9 | chr13 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135619849 | TTCTCCCC others(29): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0051 | 1 | 450 | 0.0022 | -36 | c.*79 others(45): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 6/6 | 797 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
LOC102723971_chr9_135609183_135624893 | 135620160 | ACTCCCCC others(29): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(45): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0017others(8): Show | 48 | 450 | 0.1067 | -36 | c.*12 others(47): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 268 | chr9 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620195 | GTCTCCCC others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | -36 | c.*12 others(47): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 303 | chr9 | TogoVar | ||||||
LOC112267897_chr13_63741741_63753176 | 63746891 | AGCTATGG others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG01358.hp2 HG02004.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0023 | a0007c0007t0001g0000a0007c0007t0023g0000 | 5 | 426 | 0.0117 | -36 | c.111 others(43): Show |
p.Thr others(11): Show |
LOC112267897 | ENSG00000237378.3 | transcript | ENST00000611641.1 | protein_coding | 1/1 | 171/1436 | 111/390 | 37/129 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
LOC122539214_chr19_52645447_52695496 | 52687389 | ATATAATT others(29): Show |
A | intron_variant | MODIFIER | HG04115.hp1 NA19007.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0390a0003c0003t0002g0322 | 2 | 452 | 0.0044 | -36 | c.-20 others(53): Show |
LOC122539214 | ENSG00000269825.3 | transcript | ENST00000598322.3 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
LOC128092247_chr7_151056928_151066978 | 151061315 | CCCTCCTG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 416 | 0.0024 | -36 | c.-61 others(45): Show |
LOC128092247 | ENSG00000288608.1 | transcript | ENST00000674552.1 | protein_coding | 612 | chr7 | TogoVar | ||||||
LOC128125818_chr4_6059977_6075162 | 6071254 | ACCCCAGG others(29): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0077 | 1 | 462 | 0.0022 | -36 | c.-11 others(47): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1093 | chr4 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89419766 | AAAGATGG others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0009a0001c0001t0000g0011a0001c0001t0000g0012 | 3 | 366 | 0.0082 | -36 | c.-15 others(47): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1475 | chr16 | TogoVar |