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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INSC_chr11_15109923_15252208 | 15113143 | T | TTCTTTCT others(42): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 270 | 0.0037 | 49 | c.-19 others(60): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1779 | chr11 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1324172 | G | GGGGCTCG others(42): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 354 | 0.0028 | 49 | c.28+ others(62): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881476 | A | AGGGGGGG others(42): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0351 | 1 | 358 | 0.0028 | 49 | c.9+8 others(62): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881674 | C | CCGGCCAG others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0006 | 1 | 358 | 0.0028 | 49 | c.9+8 others(62): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 314 | 0.0032 | 49 | c.85- others(64): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 314 | 0.0032 | 49 | c.85- others(64): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19855605 | A | ATGATGTA others(42): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0179 | 1 | 244 | 0.0041 | 49 | c.803 others(64): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680364 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0081 | 1 | 278 | 0.0036 | 49 | c.67+ others(66): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25085739 | T | TCCCATAT others(42): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0006 | a0002c0002t0001a0003c0003t0001a0005c0006t0001 | a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0160 others(4): Show |
7 | 344 | 0.0204 | 49 | c.315 others(66): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109765490 | A | ACTCCAAC others(42): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG01943.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0015a0001c0001t0024a0001c0001t0039others(15): Show | a0001c0001t0015g0106 a0001c0001t0024g0124 a0001c0001t0024g0126 others(21): Show |
24 | 398 | 0.0603 | 49 | c.401 others(68): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766078 | A | ACTCCGAC others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0024a0001c0001t0039a0001c0003t0008others(8): Show | a0001c0001t0024g0124 a0001c0001t0024g0126 a0001c0001t0039g0125 others(12): Show |
15 | 398 | 0.0377 | 49 | c.401 others(68): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766372 | A | ACTCCAAC others(42): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02145.hp1 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0024a0001c0003t0008a0001c0004t0008others(7): Show | a0001c0001t0024g0124 a0001c0001t0024g0126 a0001c0003t0008g0162 others(11): Show |
14 | 398 | 0.0352 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766568 | G | GCTCCGAC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0039a0001c0022t0040 | a0001c0001t0039g0125 a0001c0022t0040g0240 |
2 | 398 | 0.0050 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766712 | C | CTGACTCC others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0050 | 1 | 398 | 0.0025 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68396935 | T | TAATATAT others(42): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG02056.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0003a0001c0002t0076a0001c0002t0115others(6): Show | a0001c0001t0003g0066 a0001c0002t0076g0076 a0001c0002t0115g0004 others(6): Show |
9 | 242 | 0.0372 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400754 | T | TAATATTA others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0221 | 1 | 242 | 0.0041 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400809 | T | TAATATTA others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 |
a0001a0019 | a0001c0006a0019c0049 | a0001c0006t0035a0019c0049t0010 | a0001c0006t0035g0229 a0019c0049t0010g0241 |
2 | 242 | 0.0083 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31270126 | C | CTCCTTTG others(42): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG02683.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0003a0004c0006t0003 | a0002c0003t0003g0080 a0002c0003t0003g0102 a0004c0006t0003g0004 others(1): Show |
4 | 244 | 0.0164 | 49 | c.428 others(64): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63473815 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0098 |
5 | 374 | 0.0134 | 49 | c.254 others(66): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067662 | A | ACCCCCCT others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0013t0001 | a0001c0001t0003g0197 a0001c0013t0001g0055 |
2 | 233 | 0.0086 | 49 | c.130 others(68): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160496 | G | GGGGGGCC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0026 | a0002c0026t0026 | a0002c0026t0026g0043 | 1 | 158 | 0.0063 | 49 | c.222 others(68): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160893 | G | GGGAGCCT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 |
a0002 | a0002c0005a0002c0037 | a0002c0005t0001a0002c0037t0001 | a0002c0005t0001g0016 a0002c0037t0001g0139 |
2 | 158 | 0.0127 | 49 | c.222 others(68): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03239.hp2 HG03710.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0072 a0001c0002t0001g0088 a0001c0002t0001g0128 others(9): Show |
12 | 284 | 0.0423 | 49 | c.323 others(66): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 206 | 0.0049 | 49 | c.115 others(68): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75429879 | A | AGGGCTGC others(42): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 2 | 358 | 0.0056 | 49 | c.-24 others(66): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134863 | T | TAAATATA others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0133 a0001c0001t0009g0134 |
2 | 338 | 0.0059 | 49 | c.117 others(70): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87614267 | C | CGCAGGCC others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0148 | 1 | 380 | 0.0026 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGCCC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(200): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(62): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(199): Show |
203 | 380 | 0.5342 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGTCC others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18982.hp2 NA20129.hp2 |
a0001a0010 | a0001c0001a0001c0003a0010c0045 | a0001c0001t0001a0001c0003t0001a0010c0045t0001 | a0001c0001t0001g0275 a0001c0003t0001g0332 a0010c0045t0001g0333 |
3 | 380 | 0.0079 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGTCC others(42): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 380 | 0.0026 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614273 | T | CCCCTGTA others(42): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 380 | 0.0026 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87614405 | A | AAGGATAA others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(97): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0027others(29): Show | a0001c0001t0001g0033 a0001c0001t0001g0122 a0001c0001t0001g0123 others(97): Show |
100 | 380 | 0.2632 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614842 | T | TTCCCGGG others(42): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0013a0001c0014a0001c0023 | a0001c0013t0005a0001c0014t0001a0001c0023t0001 | a0001c0013t0005g0315 a0001c0014t0001g0170 a0001c0023t0001g0269 others(1): Show |
4 | 380 | 0.0105 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124366911 | G | GGCGGCTG others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01243.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0019others(8): Show | a0001c0001t0003a0001c0007t0003a0001c0019t0004others(8): Show | a0001c0001t0003g0010 a0001c0007t0003g0101 a0001c0019t0004g0104 others(9): Show |
12 | 116 | 0.1035 | 49 | c.177 others(70): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(42): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 380 | 0.0026 | 49 | c.*37 others(60): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883354 | G | GGGAGGGA others(42): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 146 | 0.0069 | 49 | c.227 others(68): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210718477 | A | ATATATAC others(42): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0011 | 1 | 164 | 0.0061 | 49 | c.211 others(70): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234070 | A | ATATAACA others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0029 | 1 | 80 | 0.0125 | 49 | c.62- others(68): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053 | a0001c0001t0052g0096 a0001c0001t0053g0097 |
2 | 432 | 0.0046 | 49 | c.-12 others(60): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNN2_chr5_114357070_114501496 | 114373658 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18999.hp1 NA18999.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0001a0002c0017t0001 | a0002c0002t0001g0179 a0002c0017t0001g0178 |
2 | 250 | 0.0080 | 49 | c.121 others(68): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154755488 | A | AAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0008 | a0008c0016 | a0008c0016t0007 | a0008c0016t0007g0209 a0008c0016t0007g0210 |
2 | 238 | 0.0084 | 49 | c.144 others(70): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154755496 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp1 HG03579.hp1 others(1): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0012 | a0002c0002t0005a0003c0003t0040a0003c0003t0075others(1): Show | a0002c0002t0005g0143 a0003c0003t0040g0184 a0003c0003t0075g0162 others(1): Show |
4 | 238 | 0.0168 | 49 | c.144 others(70): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 73024381 | T | TGATAGAT others(42): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0005 | a0001c0001t0009g0037 a0001c0002t0005g0063 |
2 | 80 | 0.0250 | 49 | c.490 others(68): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0367 | 1 | 392 | 0.0026 | 49 | c.186 others(66): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 6807926 | C | CTCTGGGA others(42): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02257.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0027others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(11): Show | a0001c0001t0002g0142 a0001c0001t0002g0161 a0001c0001t0006g0260 others(13): Show |
16 | 266 | 0.0602 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6807975 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0008a0003c0007 | a0001c0001t0002a0002c0008t0001a0003c0007t0001 | a0001c0001t0002g0184 a0002c0008t0001g0186 a0003c0007t0001g0183 others(1): Show |
4 | 266 | 0.0150 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6807975 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0006a0010others(3): Show | a0001c0002a0006c0009a0010c0013others(3): Show | a0001c0002t0003a0001c0002t0006a0006c0009t0003others(5): Show | a0001c0002t0003g0258 a0001c0002t0006g0252 a0006c0009t0003g0254 others(5): Show |
8 | 266 | 0.0301 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6808086 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0008 | a0002c0008t0008 | a0002c0008t0008g0208 | 1 | 266 | 0.0038 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6808086 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(121): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0027others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0066 others(121): Show |
124 | 266 | 0.4662 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6808113 | G | GGAGGTGG others(42): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0202 | 1 | 266 | 0.0038 | 49 | c.320 others(66): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | chr9 | TogoVar |