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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITIH5_chr10_7554270_7671966 | 7624857 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 342 | 0.0029 | 30 | c.653 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644863 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0258 | 1 | 342 | 0.0029 | 30 | c.136 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 348 | 0.0029 | 30 | c.768 others(47): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609089 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0049 | 1 | 176 | 0.0057 | 30 | c.164 others(49): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26462154 | C | CTTTTGTT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 |
a0003a0007 | a0003c0032a0007c0036 | a0003c0032t0009a0007c0036t0015 | a0003c0032t0009g0049 a0007c0036t0015g0101 |
2 | 142 | 0.0141 | 30 | c.634 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516270 | A | AGGAAAGG others(23): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0134 | 1 | 142 | 0.0070 | 30 | c.507 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516270 | A | AGGAAAGG others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0008 | a0001c0008t0037 | a0001c0008t0037g0031 | 1 | 142 | 0.0070 | 30 | c.507 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516270 | A | AGGAAAGG others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0023 | a0002c0023t0019 | a0002c0023t0019g0131 | 1 | 142 | 0.0070 | 30 | c.507 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516310 | A | AGGAAAGG others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01496.hp2 |
a0001 | a0001c0008a0001c0028 | a0001c0008t0002a0001c0028t0010 | a0001c0008t0002g0097 a0001c0028t0010g0125 |
2 | 142 | 0.0141 | 30 | c.507 others(51): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26565903 | G | GGAGGGGA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0005a0001c0025 | a0001c0001t0017a0001c0005t0016a0001c0025t0051 | a0001c0001t0017g0102 a0001c0005t0016g0025 a0001c0025t0051g0133 |
3 | 142 | 0.0211 | 30 | c.463 others(49): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTATAT others(23): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTAT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0019 | a0019c0052 | a0019c0052t0001 | a0019c0052t0001g0011 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCC others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01258.hp1 HG02074.hp1 others(5): Show |
a0002a0003a0012others(1): Show | a0002c0001a0003c0005a0003c0007others(2): Show | a0002c0001t0002a0003c0005t0003a0003c0007t0003others(3): Show | a0002c0001t0002g0203 a0002c0001t0002g0218 a0003c0005t0003g0200 others(5): Show |
8 | 312 | 0.0256 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG03017.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0105 a0001c0002t0002g0106 a0001c0002t0002g0168 |
3 | 312 | 0.0096 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0172 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0124 | 1 | 312 | 0.0032 | 30 | c.-98 others(47): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599690 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0021 | a0003c0021t0006 | a0003c0021t0006g0225 | 1 | 312 | 0.0032 | 30 | c.122 others(51): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33690790 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0154 | 1 | 242 | 0.0041 | 30 | c.-32 others(49): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24337315 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0025 | 1 | 224 | 0.0045 | 30 | c.-33 others(47): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1/39 | chr2 | TogoVar | |||||||
IVL_chr1_152903546_152916886 | 152910325 | G | GGAGCAGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp2 HG01361.hp2 HG01433.hp1 others(31): Show |
a0004a0016a0027others(1): Show | a0004c0004a0004c0015a0004c0042others(3): Show | a0004c0004t0002a0004c0015t0002a0004c0015t0004others(4): Show | a0004c0004t0002g0003 a0004c0004t0002g0004 a0004c0004t0002g0010 others(6): Show |
34 | 426 | 0.0798 | 30 | c.679 others(37): Show |
p.Glu others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 772/2152 | 709/1758 | 237/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IVL_chr1_152903546_152916886 | 152910325 | G | GGAGCAGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG02809.hp2 HG03516.hp2 |
a0020 | a0020c0027 | a0020c0027t0002 | a0020c0027t0002g0003 | 2 | 426 | 0.0047 | 30 | c.534 others(37): Show |
p.Gln others(43): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 598/2152 | 535/1758 | 179/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IVL_chr1_152903546_152916886 | 152910476 | G | CAGCAGCA others(23): Show |
conservative_inframe_insertion | MODERATE | HG01123.hp2 | a0026 | a0026c0029 | a0026c0029t0001 | a0026c0029t0001g0001 | 1 | 426 | 0.0024 | 30 | c.678 others(37): Show |
p.Pro others(43): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 742/2152 | 679/1758 | 227/585 | chr1 | TogoVar | |||
IVL_chr1_152903546_152916886 | 152910505 | A | AGAGCAGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(110): Show |
a0001a0024 | a0001c0001a0001c0011a0001c0017others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(7): Show |
113 | 426 | 0.2653 | 30 | c.708 others(37): Show |
p.Pro others(43): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 772/2152 | 709/1758 | 237/585 | chr1 | TogoVar | |||
IVL_chr1_152903546_152916886 | 152910982 | C | CCTGGTGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00673.hp1 | a0024 | a0024c0043 | a0024c0043t0002 | a0024c0043t0002g0002 | 1 | 426 | 0.0024 | 30 | c.121 others(39): Show |
p.Lys others(13): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 1303/2152 | 1240/1758 | 414/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IZUMO3_chr9_24537952_24550897 | 24546446 | C | CCTTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0002t0001g0013 |
2 | 426 | 0.0047 | 30 | c.-79 others(39): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 550 | chr9 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 326 | 0.0031 | 30 | c.-77 others(49): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0293 a0001c0003t0001g0190 |
2 | 326 | 0.0061 | 30 | c.-77 others(49): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 a0001c0001t0001g0304 |
2 | 326 | 0.0061 | 30 | c.-77 others(49): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5125721 | C | CCATTTCT others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(145): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0006others(37): Show | a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 others(142): Show |
148 | 364 | 0.4066 | 30 | c.317 others(47): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5131435 | A | ATTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0030 a0001c0003t0013g0051 |
2 | 364 | 0.0055 | 30 | c.*46 others(41): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 1488 | chr9 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147742155 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18949.hp2 NA18964.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0084a0001c0002t0088 | a0001c0002t0005g0233 a0001c0002t0084g0239 a0001c0002t0088g0241 |
3 | 250 | 0.0120 | 30 | c.-14 others(51): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132079139 | T | TGGCCTGG others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 HG04228.hp2 |
a0001a0004 | a0001c0015a0001c0022a0004c0045 | a0001c0015t0005a0001c0022t0002a0004c0045t0001 | a0001c0015t0005g0140 a0001c0022t0002g0080 a0004c0045t0001g0090 |
3 | 158 | 0.0190 | 30 | c.-13 others(51): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0227 | 1 | 328 | 0.0031 | 30 | c.67+ others(47): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 206 | 0.0049 | 30 | c.386 others(47): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACAGA others(23): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01175.hp2 HG01934.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0130 others(7): Show |
10 | 206 | 0.0485 | 30 | c.386 others(47): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27849754 | C | CACAGACA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0170 | 1 | 206 | 0.0049 | 30 | c.386 others(47): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27849772 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0197 others(1): Show |
4 | 206 | 0.0194 | 30 | c.386 others(47): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27898304 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 206 | 0.0049 | 30 | c.189 others(47): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JKAMP_chr14_59479517_59510410 | 59502754 | T | TTGTTTTG others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0069 a0001c0001t0003g0010 a0001c0001t0003g0013 others(11): Show |
31 | 358 | 0.0866 | 30 | c.718 others(47): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59508399 | T | TACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG03831.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0038 others(1): Show |
4 | 358 | 0.0112 | 30 | c.*43 others(41): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 2990 | chr14 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0152 |
2 | 310 | 0.0065 | 30 | c.334 others(49): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 NA19000.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0240 a0003c0003t0001g0171 a0003c0003t0001g0174 others(2): Show |
5 | 310 | 0.0161 | 30 | c.333 others(49): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0017 a0004c0004t0002g0023 |
2 | 310 | 0.0065 | 30 | c.333 others(49): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76730441 | A | AAAAAAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | 30 | c.-39 others(41): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 3836 | chr17 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18955.hp2 NA18968.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0138 |
4 | 386 | 0.0104 | 30 | c.65- others(45): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 386 | 0.0026 | 30 | c.65- others(45): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 386 | 0.0026 | 30 | c.65- others(45): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |