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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG2_chr2_945849_1372613 | 1343273 | TCCCCTGT others(1920): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp2 |
a0003a0010 | a0003c0008a0010c0012 | a0003c0008t0001a0010c0012t0001 | a0003c0008t0001g0013a0010c0012t0001g0147 | 2 | 190 | 0.0105 | -1927 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IPCEF1_chr6_154149496_154361803 | 154359877 | TGGCCTCC others(1919): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017 | 1 | 264 | 0.0038 | -1926 | c.-51 others(11): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3075 | chr6 | TogoVar | ||||||
FAM151A_chr1_54604181_54628525 | 54626600 | GGTCAGGC others(1918): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(140): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0050a0001c0001t0001g0194a0001c0001t0001g0200others(100): Show | 143 | 448 | 0.3192 | -1925 | c.-51 others(11): Show |
FAM151A | ENSG00000162391.12 | transcript | ENST00000302250.7 | protein_coding | 3076 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203715148 | ACCTGTAA others(1916): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01074.hp1 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0092a0001c0001t0002g0044a0001c0001t0002g0046others(56): Show | 59 | 318 | 0.1855 | -1923 | c.240 others(18): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAXO2_chr15_82257818_82289927 | 82273536 | ATGTTTTT others(1916): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0020 | 3 | 406 | 0.0074 | -1923 | c.433 others(17): Show |
SAXO2 | ENSG00000188659.10 | transcript | ENST00000682753.1 | protein_coding | 3/3 | chr15 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137566102 | TCTGTCTG others(1915): Show |
T | intron_variant | MODIFIER | NA18944.hp2 NA18960.hp1 NA18964.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0136a0001c0001t0001g0171others(3): Show | 6 | 340 | 0.0177 | -1922 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3090743 | TGCACCTA others(1915): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02145.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0006a0001c0001t0003g0031a0001c0001t0003g0056others(17): Show | 20 | 340 | 0.0588 | -1922 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DYNC2I2_chr9_128628653_128661847 | 128649777 | GAGGTCAG others(1913): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(176): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(151): Show | 179 | 368 | 0.4864 | -1920 | c.186 others(17): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
C2CD4B_chr15_62158535_62170285 | 62168366 | AAAGCAGG others(1912): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 432 | 0.0023 | -1919 | c.-51 others(11): Show |
C2CD4B | ENSG00000205502.4 | transcript | ENST00000380392.4 | protein_coding | 3082 | chr15 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236424622 | TGTCCATC others(1912): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0073a0001c0005t0002g0041a0001c0005t0002g0059others(3): Show | 6 | 208 | 0.0289 | -1919 | c.101 others(19): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
LRRN4_chr20_6035546_6059060 | 6045049 | CATTTTTT others(1910): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00639.hp2 others(46): Show |
a0001a0003a0010others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0015t0009a0003c0003t0002others(4): Show | a0001c0001t0001g0109a0001c0015t0009g0036a0003c0003t0002g0004others(15): Show | 49 | 402 | 0.1219 | -1917 | c.861 others(16): Show |
LRRN4 | ENSG00000125872.9 | transcript | ENST00000378858.5 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14742874 | GGAGAATA others(1908): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02818.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0001 | a0001c0001t0003g0011a0003c0003t0001g0175a0003c0003t0001g0207others(1): Show | 4 | 380 | 0.0105 | -1915 | c.194 others(21): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67967722 | GGCACAAG others(1905): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02818.hp1 others(7): Show |
a0001a0008a0013 | a0001c0005a0008c0023a0013c0025 | a0001c0005t0005a0008c0023t0005a0013c0025t0005 | a0001c0005t0005g0099a0001c0005t0005g0100a0001c0005t0005g0265others(7): Show | 10 | 274 | 0.0365 | -1912 | c.853 others(19): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 26/27 | chr17 | TogoVar | ||||||
RAP1GDS1_chr4_98256384_98448858 | 98366415 | GGTATGTC others(1903): Show |
G | intron_variant | MODIFIER | HG00558.hp2 NA19064.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0131a0001c0001t0001g0134 | 3 | 242 | 0.0124 | -1910 | c.362 others(19): Show |
RAP1GDS1 | ENSG00000138698.15 | transcript | ENST00000408927.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50751748 | CGGGCGGA others(1902): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0216 | 1 | 284 | 0.0035 | -1909 | c.*69 others(11): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3092 | chr12 | TogoVar | ||||||
ID1_chr20_31600289_31611510 | 31606543 | AGGGGCCT others(1902): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 298 | 0.0067 | -1909 | c.*45 others(10): Show |
ID1 | ENSG00000125968.9 | transcript | ENST00000376112.4 | protein_coding | 34 | chr20 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3685885 | GGGGCCCC others(1902): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 362 | 0.0028 | -1909 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113986288 | ACCCATTC others(1902): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0012 | 2 | 67 | 0.0299 | -1909 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77828826 | CATTTAAT others(1900): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03710.hp1 others(8): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0016t0001 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0094others(8): Show | 11 | 286 | 0.0385 | -1907 | c.219 others(17): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RAB18_chr10_27499304_27547239 | 27505061 | CTTTGAAA others(1900): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062a0001c0001t0003g0239a0001c0001t0003g0240 | 4 | 410 | 0.0098 | -1907 | c.68+ others(14): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32723063 | TAAAGACT others(1898): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02486.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0116a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | 400 | 0.0125 | -1905 | c.241 others(17): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120833027 | GACATGGC others(1898): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0085 | 1 | 160 | 0.0063 | -1905 | c.148 others(19): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28633672 | TTTTTTTT others(1898): Show |
T | upstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 351 | 0.0029 | -1905 | c.-45 others(11): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 4392 | chr16 | TogoVar | ||||||
LASP1NB_chr17_38920614_38934381 | 38926899 | CTCTCCAG others(1897): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0001 | 1 | 422 | 0.0024 | -1904 | c.*60 others(10): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 2/2 | 1132 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
DLGAP2_chr8_732628_1713476 | 1015535 | GTGACCAG others(1896): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -1903 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32723063 | TAAAGACT others(1895): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(138): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(130): Show | 141 | 400 | 0.3525 | -1902 | c.241 others(17): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11170292 | GTACTGGG others(1895): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG06807.hp2 |
a0001a0004 | a0001c0012a0004c0027 | a0001c0012t0004a0004c0027t0004 | a0001c0012t0004g0001a0001c0012t0004g0002a0004c0027t0004g0003 | 3 | 256 | 0.0117 | -1902 | c.425 others(19): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 28/57 | chr1 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19811183 | TTGTGGAA others(1895): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 1 | 204 | 0.0049 | -1902 | c.162 others(19): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765474 | CGGGCTGA others(1894): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0138 | 1 | 412 | 0.0024 | -1901 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
D2HGDH_chr2_241729630_241773811 | 241765543 | GAGGGGGG others(1894): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0068 | 1 | 412 | 0.0024 | -1901 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
TRMT61B_chr2_28844821_28875309 | 28862506 | GTATTTTT others(1894): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 360 | 0.0028 | -1901 | c.802 others(16): Show |
TRMT61B | ENSG00000171103.11 | transcript | ENST00000306108.10 | protein_coding | 2/6 | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1893): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02630.hp1 others(1): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0007a0003c0003t0007a0007c0007t0007 | a0002c0002t0007g0075a0002c0002t0007g0170a0003c0003t0007g0353others(1): Show | 4 | 412 | 0.0097 | -1900 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1893): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01069.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0007a0002c0002t0007a0003c0003t0021others(4): Show | a0001c0001t0007g0159a0001c0001t0007g0214a0001c0001t0007g0215others(12): Show | 17 | 412 | 0.0413 | -1900 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32723063 | TAAAGACT others(1892): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(58): Show | 72 | 400 | 0.1800 | -1899 | c.241 others(17): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110249682 | GGAAGAAA others(1892): Show |
G | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 372 | 0.0027 | -1899 | c.437 others(17): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PIK3R6_chr17_8797722_8872674 | 8810045 | TTTTCACA others(1892): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0037others(79): Show | 83 | 354 | 0.2345 | -1899 | c.199 others(19): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137888930 | CGGCTCAG others(1891): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG03017.hp1 |
a0002 | a0002c0004a0002c0020 | a0002c0004t0001a0002c0020t0002 | a0002c0004t0001g0014a0002c0004t0001g0019a0002c0020t0002g0015 | 3 | 248 | 0.0121 | -1898 | c.530 others(17): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32723063 | TAAAGACT others(1889): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119a0001c0001t0001g0129a0001c0001t0001g0130others(8): Show | 11 | 400 | 0.0275 | -1896 | c.241 others(17): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1540486 | AGTTCAGA others(1888): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0026 | 1 | 106 | 0.0094 | -1895 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
LLPH_chr12_66111555_66135750 | 66133855 | TGAAAATG others(1888): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(233): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0027others(75): Show | 236 | 364 | 0.6484 | -1895 | c.-50 others(11): Show |
LLPH | ENSG00000139233.7 | transcript | ENST00000266604.7 | protein_coding | 3106 | chr12 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16856536 | TAACTGGA others(1887): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 458 | 0.0022 | -1894 | c.*11 others(11): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 2875 | chr7 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288243 | GTCTCTGC others(1886): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 295 | 0.0034 | -1893 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4147 | chr1 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32723063 | TAAAGACT others(1886): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 400 | 0.0025 | -1893 | c.241 others(17): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
FANCC_chr9_95094054_95322709 | 95274125 | TCAACCCG others(1885): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 278 | 0.0036 | -1892 | c.-78 others(19): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805520 | CTCCCTCC others(1885): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0075 | 1 | 314 | 0.0032 | -1892 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1234 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805520 | CTCCCTCC others(1885): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 319 | 0.0031 | -1892 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3672 | chr2 | TogoVar | ||||||
TRAP1_chr16_3653037_3722524 | 3702090 | CCCAGCCT others(1885): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03579.hp1 |
a0001a0015 | a0001c0006a0015c0024 | a0001c0006t0001a0015c0024t0001 | a0001c0006t0001g0272a0015c0024t0001g0273 | 2 | 412 | 0.0049 | -1892 | c.89- others(17): Show |
TRAP1 | ENSG00000126602.11 | transcript | ENST00000246957.10 | protein_coding | 1/17 | chr16 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3090743 | TGCACCTA others(1884): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0118a0001c0001t0003g0318 | 2 | 340 | 0.0059 | -1891 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0003a0006a0007others(6): Show | a0003c0003a0006c0008a0006c0034others(7): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(8): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(44): Show | 47 | 212 | 0.2217 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97188626 | CTGTGTGC others(1883): Show |
C | exon_loss_variant | HIGH | NA19010.hp2 | a0046 | a0046c0037 | a0046c0037t0001 | a0046c0037t0001g0099 | 1 | 212 | 0.0047 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |