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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCE_chr7_2553979_2619728 | 2577482 | ACGCATTG others(44): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0016 | a0001c0010t0009a0002c0016t0003 | a0001c0010t0009g0004 a0002c0016t0003g0074 a0002c0016t0003g0075 others(1): Show |
4 | 402 | 0.0100 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577651 | TTGGCTGT others(44): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0029a0001c0033others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(52): Show | a0001c0001t0001g0358 a0001c0001t0005g0027 a0001c0001t0005g0040 others(106): Show |
109 | 292 | 0.3733 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577773 | CTGTGTGC others(44): Show |
C | intron_variant | MODIFIER | HG04184.hp2 HG04204.hp1 NA18959.hp1 others(3): Show |
a0001a0012 | a0001c0003a0001c0025a0012c0023 | a0001c0003t0001a0001c0025t0001a0012c0023t0001 | a0001c0003t0001g0228 a0001c0003t0001g0230 a0001c0003t0001g0241 others(3): Show |
6 | 384 | 0.0156 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577788 | ACGCATTG others(44): Show |
A | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0319 | 1 | 282 | 0.0035 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156554100 | TGAACAGA others(44): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 338 | 0.0030 | -51 | c.144 others(67): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 13/37 | chr1 | TogoVar | |||||||
IRAK3_chr12_66184214_66259622 | 66257990 | ATCAAATC others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0145 | 1 | 344 | 0.0029 | -51 | c.*98 others(62): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 3369 | chr12 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55450605 | AGAGAAGG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(58): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(19): Show |
61 | 378 | 0.1614 | -51 | c.*26 others(62): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2379 | chr19 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512009 | TTTTCTTT others(44): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0007 | 1 | 155 | 0.0065 | -51 | c.898 others(68): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44914080 | AGGTGCCC others(44): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0038 | a0005c0038t0002 | a0005c0038t0002g0237 | 1 | 442 | 0.0023 | -51 | c.-3- others(66): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0183 | 1 | 164 | 0.0061 | -51 | c.215 others(68): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105149950 | GGGGGTGG others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 362 | 0.0028 | -51 | c.160 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105149961 | GGAGGTGG others(44): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03471.hp1 HG03540.hp1 others(2): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0010a0004c0004t0001others(2): Show | a0001c0001t0001g0207 a0002c0002t0010g0107 a0004c0004t0001g0160 others(2): Show |
5 | 362 | 0.0138 | -51 | c.160 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105161798 | TCCCTGTC others(44): Show |
T | intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 122 | 0.0082 | -51 | c.418 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160184 | GGGTGGGC others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0123 | 1 | 152 | 0.0066 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160373 | GGTCTATT others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0123 | 1 | 148 | 0.0068 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160431 | TCCTGTGT others(44): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0008 | 1 | 141 | 0.0071 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161109 | TCTATTCC others(44): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0003 | a0001c0001t0008g0098 a0001c0001t0008g0143 a0001c0006t0003g0082 others(1): Show |
4 | 133 | 0.0301 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18285579 | AAGGGGTC others(44): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 406 | 0.0025 | -51 | c.-41 others(62): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3958 | chr19 | TogoVar | |||||||
KCNQ4_chr1_40778787_40845452 | 40808007 | TGAGGCAG others(44): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(2): Show |
5 | 370 | 0.0135 | -51 | c.315 others(68): Show |
KCNQ4 | ENSG00000117013.17 | transcript | ENST00000347132.10 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941326 | TTCCTTCC others(44): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG03834.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0013 a0001c0001t0004g0020 a0001c0001t0005g0074 others(5): Show |
8 | 80 | 0.1000 | -51 | c.399 others(70): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6807891 | TGGGGGTG others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0182 | 1 | 264 | 0.0038 | -51 | c.320 others(68): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KHK_chr2_27081772_27105762 | 27101385 | GGCCTCTG others(44): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(111): Show |
309 | 322 | 0.9596 | -51 | c.*16 others(62): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 624 | chr2 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94529244 | ACATATAT others(44): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0015 | a0002c0015t0036 | a0002c0015t0036g0007 | 1 | 51 | 0.0196 | -51 | c.132 others(68): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 3/20 | chr5 | TogoVar | |||||||
KIF3C_chr2_25921598_25987497 | 25962923 | TATATAAT others(44): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0185 | 1 | 176 | 0.0057 | -51 | c.154 others(70): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
KIF3C_chr2_25921598_25987497 | 25962932 | CATATAAT others(44): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 214 | 0.0047 | -51 | c.154 others(70): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
KIR3DL2_chr19_54845443_54872207 | 54857440 | ACTAATTT others(44): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | -51 | c.949 others(68): Show |
KIR3DL2 | ENSG00000240403.5 | transcript | ENST00000326321.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KLF4_chr9_107479852_107494769 | 107487627 | TCAGGGCT others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0018 | 1 | 426 | 0.0023 | -51 | c.716 others(58): Show |
p.Gly others(13): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 3/5 | 1363/2936 | 716/1440 | 239/479 | chr9 | TogoVar | |||
KLHDC4_chr16_87702812_87770986 | 87733556 | GCCACTCC others(44): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(128): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0184 others(127): Show |
131 | 377 | 0.3475 | -51 | c.507 others(68): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87733693 | GCCTCCTA others(44): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp1 others(27): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0005others(6): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(7): Show | a0001c0001t0001g0140 a0002c0002t0001g0153 a0002c0002t0001g0154 others(27): Show |
30 | 354 | 0.0847 | -51 | c.507 others(68): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLK5_chr19_50938303_50958038 | 50956572 | ATTCTCTT others(44): Show |
A | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 378 | 0.0026 | -51 | c.-38 others(62): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 3535 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50956572 | ATTCTCTT others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 314 | 0.0032 | -51 | c.*25 others(62): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 2058 | chr19 | TogoVar | |||||||
KRBOX5_chr16_31708244_31766565 | 31733665 | ATCTTATT others(44): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 372 | 0.0027 | -51 | c.226 others(70): Show |
KRBOX5 | ENSG00000197302.11 | transcript | ENST00000316491.14 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KRT16_chr17_41604778_41617767 | 41608446 | ATCCCAAC others(44): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -51 | c.*14 others(62): Show |
KRT16 | ENSG00000186832.9 | transcript | ENST00000301653.9 | protein_coding | 1331 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40978598 | CACTAATA others(44): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02818.hp2 others(2): Show |
a0004 | a0004c0005a0004c0007 | a0004c0005t0002a0004c0007t0002 | a0004c0005t0002g0032 a0004c0005t0002g0063 a0004c0005t0002g0066 others(1): Show |
5 | 450 | 0.0111 | -51 | c.119 others(68): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
KRTAP10-4_chr21_44568729_44580371 | 44576294 | TGTCCCAG others(44): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 458 | 0.0044 | -51 | c.*13 others(62): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 924 | chr21 | TogoVar | |||||||
KRTAP10-4_chr21_44568729_44580371 | 44576320 | ACTCATGG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01975.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0035others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0035t0001others(6): Show | a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0035t0001g0000 others(6): Show |
16 | 437 | 0.0366 | -51 | c.*13 others(62): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 950 | chr21 | TogoVar | |||||||
KRTAP10-5_chr21_44574455_44585604 | 44576294 | TGTCCCAG others(44): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 449 | 0.0045 | -51 | c.*34 others(62): Show |
KRTAP10-5 | ENSG00000241123.1 | transcript | ENST00000400372.1 | protein_coding | 3160 | chr21 | TogoVar | |||||||
KRTAP10-5_chr21_44574455_44585604 | 44576320 | ACTCATGG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01975.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0002g0000 others(2): Show |
16 | 432 | 0.0370 | -51 | c.*33 others(62): Show |
KRTAP10-5 | ENSG00000241123.1 | transcript | ENST00000400372.1 | protein_coding | 3134 | chr21 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158540 | AGAAGAAG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 1 | 418 | 0.0024 | -51 | c.*16 others(62): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1108 | chr17 | TogoVar | |||||||
KRTAP5-10_chr11_71560563_71571735 | 71570273 | CTCCAGCA others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0000 | 1 | 466 | 0.0021 | -51 | c.*40 others(62): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 3539 | chr11 | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860479 | CTTTCTTT others(44): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0038 others(5): Show |
13 | 281 | 0.0463 | -51 | c.*21 others(62): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1036 | chrX | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 5958109 | GAAGAAGA others(44): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG01952.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0003t0002a0001c0003t0005others(1): Show | a0001c0001t0005g0040 a0001c0003t0002g0039 a0001c0003t0005g0002 others(7): Show |
10 | 91 | 0.1099 | -51 | c.167 others(70): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129286664 | ATAATAAT others(44): Show |
A | intron_variant | MODIFIER | NA18946.hp2 NA19084.hp2 |
a0016 | a0016c0024a0016c0064 | a0016c0024t0004a0016c0064t0004 | a0016c0024t0004g0055 a0016c0064t0004g0073 |
2 | 86 | 0.0233 | -51 | c.253 others(70): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 18/64 | chr6 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33675860 | CAAGTTAA others(44): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0053 a0001c0001t0005g0027 a0001c0001t0005g0028 others(3): Show |
6 | 108 | 0.0556 | -51 | c.107 others(70): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LCN1_chr9_135516440_135531540 | 135518594 | GTGTGTGC others(44): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0093 | 1 | 434 | 0.0023 | -51 | c.-29 others(62): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 2845 | chr9 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104833365 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0007 | a0001c0001t0002g0056 a0001c0001t0007g0004 a0001c0002t0007g0009 |
3 | 86 | 0.0349 | -51 | c.683 others(70): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610818 | CGGGTGAG others(44): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0015a0003c0003t0002 | a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show |
7 | 140 | 0.0500 | -51 | c.717 others(68): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIMA1_chr12_50170788_50288520 | 50193531 | TATGATAT others(44): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 292 | 0.0034 | -51 | c.103 others(69): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28884920 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0013 a0001c0001t0008g0019 a0001c0001t0009g0056 others(1): Show |
4 | 61 | 0.0656 | -51 | c.-39 others(72): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LIPG_chr18_49557057_49604185 | 49595904 | GGCCTATT others(44): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0071 | a0002c0002t0071g0333 | 1 | 382 | 0.0026 | -51 | c.*53 others(62): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 10/10 | 5383 | chr18 | TogoVar |