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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCTD8_chr4_44168903_44453809 | 44182096 | ACAGCCGC others(40): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 294 | 0.0034 | -47 | c.962 others(64): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDR_chr4_55073481_55130595 | 55086765 | GGCCAAGT others(40): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0323 | 1 | 398 | 0.0025 | -47 | c.366 others(64): Show |
KDR | ENSG00000128052.10 | transcript | ENST00000263923.5 | protein_coding | 27/29 | chr4 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429680 | GTTTCCAC others(40): Show |
G | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0163 | 1 | 386 | 0.0026 | -47 | c.-50 others(58): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4870 | chr19 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 24975718 | CAGGCAGT others(40): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 254 | 0.0039 | -47 | c.-20 others(68): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIDINS220_chr2_8723858_8842613 | 8744380 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 334 | 0.0030 | -47 | c.358 others(66): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240732253 | CATGAGGG others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0005a0001c0004t0001a0001c0004t0012others(5): Show | a0001c0001t0005g0102a0001c0004t0001g0011a0001c0004t0012g0100others(11): Show | 14 | 330 | 0.0424 | -47 | c.400 others(66): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 38/48 | chr2 | TogoVar | ||||||
KIF20B_chr10_89696590_89779934 | 89739499 | GAGAAGGA others(40): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(142): Show |
a0001a0007a0010others(6): Show | a0001c0001a0001c0025a0001c0026others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0305a0001c0001t0002g0002a0001c0001t0002g0004others(118): Show | 145 | 382 | 0.3796 | -47 | c.391 others(64): Show |
KIF20B | ENSG00000138182.15 | transcript | ENST00000371728.8 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIF4A_chrX_70285104_70425886 | 70393822 | TTTCTTTC others(40): Show |
T | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029a0001c0003t0001g0034 | 2 | 259 | 0.0077 | -47 | c.223 others(66): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL15_chrX_23978720_24032186 | 23979567 | AAAAAAAA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0021a0001c0001t0011g0022 | 2 | 286 | 0.0070 | -47 | c.*83 others(58): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4152 | chrX | TogoVar | ||||||
KLHL38_chr8_123639442_123658801 | 123658648 | GGATGCTT others(40): Show |
G | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -47 | c.-51 others(58): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 4848 | chr8 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9606691 | GTATATAT others(40): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(109): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0118a0001c0001t0002g0133a0001c0001t0002g0173others(99): Show | 112 | 436 | 0.2569 | -47 | c.85+ others(62): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133222445 | GCGTGTGT others(40): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 332 | 0.0030 | -47 | c.501 others(66): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | chr10 | TogoVar | ||||||
KNSTRN_chr15_40377721_40399288 | 40377780 | CACCCAAA others(40): Show |
C | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 374 | 0.0027 | -47 | c.-50 others(58): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 4940 | chr15 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409938 | TGGGGGGG others(40): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 370 | 0.0027 | -47 | c.-37 others(58): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3604 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409940 | GGGGGGTC others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 370 | 0.0027 | -47 | c.-37 others(58): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3606 | chr12 | TogoVar | ||||||
KRTAP19-7_chr21_30555875_30566314 | 30560418 | TATTGCTC others(40): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -47 | c.*63 others(56): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 456 | chr21 | TogoVar | ||||||
LAD1_chr1_201375833_201404324 | 201403764 | AAGTAAGG others(40): Show |
A | upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 432 | 0.0023 | -47 | c.-45 others(58): Show |
LAD1 | ENSG00000159166.15 | transcript | ENST00000391967.7 | protein_coding | 4441 | chr1 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62352175 | ACTGCCCC others(40): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0117 | 1 | 186 | 0.0054 | -47 | c.687 others(60): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 4/79 | chr20 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21007689 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG03834.hp2 NA18990.hp1 |
a0003 | a0003c0005 | a0003c0005t0002a0003c0005t0033 | a0003c0005t0002g0278a0003c0005t0033g0073 | 2 | 316 | 0.0063 | -47 | c.343 others(66): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38378089 | CTCTCCCT others(40): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03486.hp2 NA19240.hp1 |
a0001a0012 | a0001c0014a0012c0017 | a0001c0014t0003a0012c0017t0003 | a0001c0014t0003g0054a0012c0017t0003g0014 | 3 | 394 | 0.0076 | -47 | c.*14 others(58): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1077 | chr20 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38378960 | GGGGGGTC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01192.hp2 others(59): Show |
a0001a0002a0019 | a0001c0001a0001c0002a0001c0023others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0023t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0023others(50): Show | 62 | 394 | 0.1574 | -47 | c.*22 others(58): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1948 | chr20 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38379009 | GGGGGGTC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0020a0001c0001t0001g0096a0001c0001t0001g0126others(89): Show | 103 | 394 | 0.2614 | -47 | c.*23 others(58): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1997 | chr20 | TogoVar | ||||||
LCK_chr1_32246265_32291165 | 32266712 | TCCTCCCC others(40): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 274 | 0.0037 | -47 | c.-5- others(62): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCN8_chr9_136749386_136763243 | 136756120 | GGAACAGC others(40): Show |
G | intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0054 | 1 | 368 | 0.0027 | -47 | c.226 others(62): Show |
LCN8 | ENSG00000204001.10 | transcript | ENST00000371688.8 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18478866 | TTTAAAGT others(40): Show |
T | frameshift_variant others(1): Show |
HIGH | HG03017.hp1 | a0000 | a0000c0004 | a0000c0004t0053 | a0000c0004t0053g0015 | 1 | 420 | 0.0024 | -47 | c.999 others(54): Show |
p.Ter others(5): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 7/7 | 1824/2555 | 999/999 | 333/332 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
LEMD3_chr12_65164583_65253355 | 65194701 | ACCTTAGC others(40): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0185 | 1 | 398 | 0.0025 | -47 | c.152 others(68): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104833346 | TATTATAT others(40): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0007a0001c0002t0010g0017 | 2 | 86 | 0.0233 | -47 | c.683 others(66): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
LHFPL7_chr22_24930098_24951694 | 24948157 | GGCAGAAA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 420 | 0.0024 | -47 | c.-16 others(58): Show |
LHFPL7 | ENSG00000206069.7 | transcript | ENST00000640159.2 | protein_coding | 1464 | chr22 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124506823 | GGGTAGGG others(40): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 260 | 0.0039 | -47 | c.624 others(64): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 858433 | TCACGGGA others(40): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 HG03516.hp1 |
a0009a0022 | a0009c0024a0022c0042 | a0009c0024t0001a0022c0042t0001 | a0009c0024t0001g0117a0009c0024t0001g0118a0022c0042t0001g0084 | 3 | 294 | 0.0102 | -47 | c.153 others(66): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858993 | GTGTCACG others(40): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0018 | a0018c0058 | a0018c0058t0001 | a0018c0058t0001g0236 | 1 | 294 | 0.0034 | -47 | c.153 others(66): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859920 | GGGATCGG others(40): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp2 HG02109.hp1 others(4): Show |
a0001a0018 | a0001c0004a0001c0006a0001c0018others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0018t0001others(1): Show | a0001c0004t0001g0053a0001c0006t0001g0082a0001c0006t0001g0285others(4): Show | 7 | 294 | 0.0238 | -47 | c.153 others(66): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 903290 | AGGACTCC others(40): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0005a0001c0012a0001c0020 | a0001c0005t0001a0001c0012t0001a0001c0020t0001 | a0001c0005t0001g0130a0001c0012t0001g0097a0001c0012t0001g0098others(3): Show | 6 | 294 | 0.0204 | -47 | c.663 others(64): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 904772 | AGGACGCC others(40): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 294 | 0.0034 | -47 | c.663 others(64): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 904791 | TGTGGTGG others(40): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 294 | 0.0034 | -47 | c.663 others(64): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89389703 | AGGGAGCA others(40): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0196 | 1 | 366 | 0.0027 | -47 | c.9+2 others(62): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 151011747 | TCACTGTA others(40): Show |
T | intron_variant | MODIFIER | NA19068.hp1 | a0017 | a0017c0030 | a0017c0030t0002 | a0017c0030t0002g0044 | 1 | 180 | 0.0056 | -47 | c.216 others(64): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 2/56 | chr4 | TogoVar | ||||||
LRPAP1_chr4_3498612_3537422 | 3511748 | GGACCCGA others(40): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0193 | a0001c0001t0193g0142 | 1 | 420 | 0.0024 | -47 | c.*11 others(58): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 1179 | chr4 | TogoVar | |||||
LRRC4B_chr19_50511892_50573435 | 50533424 | GACCAAAG others(40): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0082others(8): Show | 12 | 360 | 0.0333 | -47 | c.298 others(66): Show |
LRRC4B | ENSG00000131409.13 | transcript | ENST00000652263.1 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
LRRC4B_chr19_50511892_50573435 | 50533471 | TACCAAAG others(40): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | 360 | 0.0056 | -47 | c.298 others(66): Show |
LRRC4B | ENSG00000131409.13 | transcript | ENST00000652263.1 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
LRRIQ1_chr12_85031351_85250105 | 85197963 | TATATAAA others(40): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG03017.hp2 NA20805.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0181a0002c0003t0001g0182a0002c0003t0001g0183 | 3 | 228 | 0.0132 | -47 | c.482 others(68): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | chr12 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 101081737 | AGCACACA others(40): Show |
A | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0001 | a0002c0001t0119 | a0002c0001t0119g0041 | 1 | 338 | 0.0030 | -47 | c.*12 others(60): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 3481 | chr15 | TogoVar | ||||||
LSM4_chr19_18301236_18328076 | 18314445 | TGAAACCA others(40): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 394 | 0.0025 | -47 | c.45+ others(62): Show |
LSM4 | ENSG00000130520.11 | transcript | ENST00000593829.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
LSM6_chr4_146170718_146196535 | 146172137 | CTTTCTTT others(40): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0011a0001c0004t0001g0031 | 3 | 376 | 0.0080 | -47 | c.-36 others(58): Show |
LSM6 | ENSG00000164167.12 | transcript | ENST00000296581.11 | protein_coding | 3580 | chr4 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 187121 | GGGGAACA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 350 | 0.0029 | -47 | c.*20 others(58): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1868 | chr16 | TogoVar | ||||||
LYPLA1_chr8_54041367_54106947 | 54085780 | CCCCGGCC others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022 | 3 | 306 | 0.0098 | -47 | c.101 others(66): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
LZTS1_chr8_20241165_20308963 | 20307718 | TTTAAGTG others(40): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 406 | 0.0025 | -47 | c.-41 others(58): Show |
LZTS1 | ENSG00000061337.16 | transcript | ENST00000381569.5 | protein_coding | 3756 | chr8 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 16035146 | TATATAAA others(40): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA19030.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0002c0002t0001g0017 | 3 | 24 | 0.1250 | -47 | c.115 others(66): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MAEA_chr4_1284891_1345137 | 1320157 | ATGCAAGA others(40): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(143): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(143): Show | 146 | 388 | 0.3763 | -47 | c.457 others(64): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAP6_chr11_75581918_75674038 | 75666490 | GAACATGT others(40): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 390 | 0.0026 | -47 | c.905 others(62): Show |
MAP6 | ENSG00000171533.12 | transcript | ENST00000304771.8 | protein_coding | 1/3 | chr11 | TogoVar |