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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIAA0825_chr5_94145851_94623604 | 94529315 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0012 | 1 | 54 | 0.0185 | 51 | c.132 others(68): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 3/20 | chr5 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 24991316 | C | CCCAGCCC others(44): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0068 | a0005c0068t0004 | a0005c0068t0004g0156 | 1 | 252 | 0.0040 | 51 | c.-20 others(72): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIF13B_chr8_29062278_29268070 | 29228472 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 104 | 0.0096 | 51 | c.149 others(70): Show |
KIF13B | ENSG00000197892.13 | transcript | ENST00000524189.6 | protein_coding | 2/39 | chr8 | TogoVar | |||||||
KIF3C_chr2_25921598_25987497 | 25962811 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 232 | 0.0043 | 51 | c.154 others(70): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
KIFAP3_chr1_169916329_170079695 | 169973105 | G | GTGTATAT others(44): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 33 | 0.0303 | 51 | c.189 others(68): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 16/19 | chr1 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126472992 | A | ACCCCCCA others(44): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0033 | 1 | 67 | 0.0149 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(44): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01433.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0092 a0001c0001t0003g0104 a0001c0001t0013g0105 others(9): Show |
12 | 15 | 0.8000 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0071 others(49): Show |
52 | 55 | 0.9455 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20430791 | T | TACTCTAA others(44): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0100 | a0002c0002t0100g0155 | 1 | 370 | 0.0027 | 51 | c.749 others(64): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133185912 | C | CGGGAGGA others(44): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19030.hp2 |
a0002a0029 | a0002c0006a0029c0064 | a0002c0006t0002a0029c0064t0001 | a0002c0006t0002g0283 a0029c0064t0001g0138 |
2 | 168 | 0.0119 | 51 | c.626 others(64): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133185912 | C | CGGGAGGA others(44): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0302 | 1 | 167 | 0.0060 | 51 | c.626 others(64): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KRTAP10-4_chr21_44568729_44580371 | 44576320 | A | ACTCATGG others(44): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(19): Show |
a0001a0002a0006others(2): Show | a0001c0002a0002c0001a0006c0010others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0003others(4): Show | a0001c0002t0001g0000 a0002c0001t0002g0000 a0002c0001t0003g0000 others(4): Show |
22 | 443 | 0.0497 | 51 | c.*13 others(62): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 950 | chr21 | TogoVar | |||||||
KRTAP10-5_chr21_44574455_44585604 | 44576320 | A | ACTCATGG others(44): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(3): Show |
18 | 434 | 0.0415 | 51 | c.*33 others(62): Show |
KRTAP10-5 | ENSG00000241123.1 | transcript | ENST00000400372.1 | protein_coding | 3134 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051410 | A | ATAATATA others(44): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 326 | 0.0061 | 51 | c.-41 others(62): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 4095 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051410 | A | ATAATATA others(44): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 NA19004.hp2 NA19007.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0000 a0009c0011t0001g0000 |
5 | 328 | 0.0152 | 51 | c.*34 others(62): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3087 | chr17 | TogoVar | |||||||
KRTAP5-9_chr11_71543420_71554608 | 71554241 | C | CCTCAGCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | 51 | c.*50 others(62): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 4634 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321225 | A | AGGAAGAG others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 |
a0015 | a0015c0051a0015c0053 | a0015c0051t0001a0015c0053t0001 | a0015c0051t0001g0060 a0015c0053t0001g0061 |
2 | 184 | 0.0109 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321452 | T | TGGGGCCA others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02257.hp2 others(4): Show |
a0002a0023a0054others(2): Show | a0002c0013a0002c0124a0023c0022others(3): Show | a0002c0013t0001a0002c0124t0001a0023c0022t0001others(3): Show | a0002c0013t0001g0163 a0002c0124t0001g0025 a0023c0022t0001g0154 others(4): Show |
7 | 154 | 0.0455 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321714 | A | AGAGGGGT others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02273.hp1 |
a0002a0031 | a0002c0003a0031c0117 | a0002c0003t0001a0031c0117t0001 | a0002c0003t0001g0125 a0031c0117t0001g0072 |
2 | 145 | 0.0138 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17580185 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02280.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0170 a0001c0005t0003g0142 |
2 | 256 | 0.0078 | 51 | c.218 others(66): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50446354 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0274 | 1 | 304 | 0.0033 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446356 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 a0001c0001t0001g0317 |
2 | 309 | 0.0065 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 303 | 0.0033 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0241 | 1 | 290 | 0.0034 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 290 | 0.0034 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 290 | 0.0034 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 296 | 0.0034 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 296 | 0.0034 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LASP1NB_chr17_38920614_38934381 | 38925934 | T | TTGCTTTC others(44): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 420 | 0.0024 | 51 | c.*12 others(66): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LASP1_chr17_38865058_38926770 | 38925934 | T | TTGCTTTC others(44): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 394 | 0.0025 | 51 | c.*71 others(62): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 4165 | chr17 | TogoVar | |||||||
LAT_chr16_28980052_28995784 | 28984442 | A | ATTAAGCG others(44): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 432 | 0.0023 | 51 | c.-97 others(60): Show |
LAT | ENSG00000213658.13 | transcript | ENST00000395456.7 | protein_coding | 609 | chr16 | TogoVar | |||||||
LCK_chr1_32246265_32291165 | 32259299 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 271 | 0.0037 | 51 | c.-6+ others(66): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LCMT1_chr16_25106742_25183228 | 25163467 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 222 | 0.0045 | 51 | c.570 others(68): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LEP_chr7_128236278_128262629 | 128258721 | C | CTTTTCTT others(44): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG02165.hp1 HG03942.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0044a0004c0007t0050 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0071 others(2): Show |
6 | 353 | 0.0170 | 51 | c.*39 others(62): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1093 | chr7 | TogoVar | |||||||
LEP_chr7_128236278_128262629 | 128258733 | C | CTTTCTTT others(44): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(10): Show |
24 | 234 | 0.1026 | 51 | c.*39 others(62): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1105 | chr7 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507259 | G | GGGTAGGG others(44): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 | 1 | 219 | 0.0046 | 51 | c.624 others(68): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIG1_chr19_48110445_48175344 | 48115543 | A | ATATAAAG others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18985.hp1 | a0013 | a0013c0013 | a0013c0013t0007 | a0013c0013t0007g0181 | 1 | 328 | 0.0030 | 51 | c.*10 others(60): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 105 | chr19 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28848166 | T | TGTATATA others(44): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0008g0019 a0001c0001t0009g0056 a0001c0001t0010g0001 others(3): Show |
6 | 56 | 0.1071 | 51 | c.-39 others(72): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LIPH_chr3_185501262_185557588 | 185538760 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0249 a0001c0002t0004g0218 a0001c0002t0004g0298 |
3 | 355 | 0.0085 | 51 | c.50- others(66): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 950489 | A | AACGACAG others(44): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 NA18906.hp1 |
a0001a0004a0007 | a0001c0001a0004c0034a0007c0028 | a0001c0001t0001a0004c0034t0015a0007c0028t0004 | a0001c0001t0001g0024 a0004c0034t0015g0273 a0007c0028t0004g0017 |
3 | 292 | 0.0103 | 51 | c.503 others(68): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0006 | 1 | 88 | 0.0114 | 51 | c.171 others(68): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0062a0001c0002t0004 | a0001c0001t0062g0130 a0001c0002t0004g0349 |
2 | 256 | 0.0078 | 51 | c.165 others(70): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0327 | 1 | 255 | 0.0039 | 51 | c.165 others(70): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
LMTK2_chr7_98101862_98214638 | 98140148 | T | TGTCTGTC others(44): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 290 | 0.0034 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 296 | 0.0034 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 296 | 0.0034 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03688.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0023a0007c0014t0001 | a0001c0001t0023g0248 a0007c0014t0001g0205 |
2 | 297 | 0.0067 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0018 | a0018c0027 | a0018c0027t0008 | a0018c0027t0008g0238 | 1 | 296 | 0.0034 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMX1A_chr1_165196867_165361715 | 165246820 | A | ATTTTGAC others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00738.hp1 others(34): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0003t0001g0022 a0001c0003t0001g0080 a0001c0003t0001g0094 others(34): Show |
37 | 286 | 0.1294 | 51 | c.496 others(68): Show |
LMX1A | ENSG00000162761.14 | transcript | ENST00000342310.7 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135620106 | C | CCTACTCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 441 | 0.0045 | 51 | c.*11 others(62): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 214 | chr9 | TogoVar |