Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALOXE3_chr17_8090900_8123514	8107961	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	392	0.0026	23	c.168 others(40): Show c.1684+506_1684+507insTTTCTTTCTTTCTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0044 a0044	a0044c0075 a0044c0075	a0044c0075t0002 a0044c0075t0002	a0044c0075t0002g0046 a0044c0075t0002g0046	1	25	0.0400	23	c.196 others(44): Show c.1962+14690_1962+14691insAAAAAAAAAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALX3_chr1_110054870_110075672	110062612	T T	TGTGTGTG others(16): Show TGTGTGTGTCACAACAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02723.hp2 others(1): Show HG02109.hp1 HG02486.hp2 HG02723.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0037 a0001c0001t0006g0078 a0001c0001t0006g0079	4	420	0.0095	23	c.595 others(40): Show c.595-1050_595-1049insCTTTCTTCTGTTGTGACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMBN_chr4_70587256_70612288	70588723	A A	ATAAAATG others(16): Show ATAAAATGTGTATATATATAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0124 a0003c0004t0006g0124	1	478	0.0021	23	c.-36 others(34): Show c.-3636_-3635insTAAAATGTGTATATATATAAAAC	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3532		chr4	TogoVar
AMBRA1_chr11_46391414_46599023	46476531	T T	TATTCACA others(16): Show TATTCACAGCATGCGAATAAGCAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp2 others(59): Show HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01981.hp2 HG02004.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18906.hp1 NA18942.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18984.hp1 NA18990.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19083.hp1 NA19240.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0004c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 others(59): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0005t0001g0012 a0001c0005t0001g0022 a0004c0006t0001g0091	62	158	0.3924	23	c.252 others(44): Show c.2521+17076_2521+17077insGTGCTTATTCGCATGCTGTGAAT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	8	0.1250	23	c.-12 others(42): Show c.-120-3891_-120-3869dupTTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02922.hp2 others(1): Show HG01243.hp2 HG01884.hp2 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0135 a0001c0001t0003g0015	4	70	0.0571	23	c.-12 others(42): Show c.-121+8132_-121+8133insATATATATATATATATATTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03486.hp2 HG04228.hp1 others(5): Show HG02083.hp1 HG03486.hp2 HG04228.hp1 NA18946.hp2 NA18960.hp2 NA18997.hp1 NA18997.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016	8	20	0.4000	23	c.38 others(34): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER2_chr13_25156679_25177288	25173997	A A	AGGTTATG others(16): Show AGGTTATGAATCATCACAAAGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	414	0.0024	23	c.-23 others(34): Show c.-2379_-2378insAGTCTTTGTGATGATTCATAACC	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		1710		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(16): Show CCTTCCTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	164	0.0061	23	c.-32 others(34): Show c.-3207_-3206insAAAGAAAGAAAGAAAGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01978.hp1 others(6): Show HG00639.hp1 HG00741.hp1 HG01978.hp1 HG01981.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG06807.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0006t0055 a0001c0007t0001	a0001c0001t0005g0006 a0001c0001t0005g0026 a0001c0001t0005g0040 others(6): Show a0001c0001t0005g0006 a0001c0001t0005g0026 a0001c0001t0005g0040 a0001c0001t0006g0027 a0001c0001t0006g0038 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0006t0055g0349 a0001c0007t0001g0168	9	95	0.0947	23	c.667 others(40): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMPH_chr7_38378704_38636373	38441803	T T	TATATATC others(16): Show TATATATCATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	269	0.0037	23	c.101 others(42): Show c.1018-5416_1018-5415insGATATATATGATATATGATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMZ2_chr17_68243043_68262155	68247357	A A	AAAAAAGC others(16): Show AAAAAAGCAAGAAAAAGAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp1 others(36): Show HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02155.hp1 HG02273.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03453.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18942.hp1 NA18947.hp2 NA18974.hp2 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19058.hp2 NA19070.hp2 NA19079.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0004 a0001c0001t0003g0024 a0001c0001t0003g0041	39	421	0.0926	23	c.-13 others(34): Show c.-1349_-1348insAAAAAGCAAGAAAAAGAAATAAG	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding		685		chr17	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	297	0.0034	23	c.-28 others(40): Show c.-28+2028_-28+2029insAAAAAAAAAAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02300.hp2 NA18972.hp2 HG01978.hp1 HG02300.hp2 NA18972.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0167 a0001c0004t0003g0173 a0001c0004t0003g0175 a0001c0004t0003g0167 a0001c0004t0003g0173 a0001c0004t0003g0175	3	117	0.0256	23	c.247 others(40): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC2_chr9_137169784_137193560	137171281	T T	TTCCAGGG others(16): Show TTCCAGGGACAGCACCCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0177 a0004c0015t0001g0177	1	414	0.0024	23	c.36 others(34): Show c.3638_*3660dupGGAGGAGGGGTGCTGTCCCTGGA	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding		3502		chr9	TogoVar
ANAPC7_chr12_110367900_110408708	110382457	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	215	0.0047	23	c.935 others(38): Show c.935+385_935+386insATATATATATATATATATATATA	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110392090	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	248	0.0040	23	c.408 others(40): Show c.408+3010_408+3011insTTTTTTTTTTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp1 HG02004.hp1 HG00609.hp2 HG01358.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0004 a0001c0001t0004g0130 a0001c0001t0015g0124 a0001c0001t0004g0004 a0001c0001t0004g0130 a0001c0001t0015g0124	3	87	0.0345	23	c.148 others(40): Show c.1483+514_1483+515insATATATATATATATATATATTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19076.hp2 NA18965.hp1 NA19076.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0028 a0001c0001 a0006c0028	a0001c0001t0006 a0006c0028t0063 a0001c0001t0006 a0006c0028t0063	a0001c0001t0006g0270 a0006c0028t0063g0269 a0001c0001t0006g0270 a0006c0028t0063g0269	2	9	0.2222	23	c.288 others(36): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856425	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0285 a0002c0006t0001g0285	1	415	0.0024	23	c.824 others(40): Show c.824-2639_824-2638insGAAAAAAAAAAAAAAAAAAAAAA	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0055 a0007c0055	a0007c0055t0006 a0007c0055t0006	a0007c0055t0006g0012 a0007c0055t0006g0012	1	151	0.0066	23	c.229 others(40): Show c.2295+590_2295+591insAAAAAAAAAAAAATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0003 a0001c0056t0003	a0001c0056t0003g0026 a0001c0056t0003g0026	1	151	0.0066	23	c.229 others(40): Show c.2295+590_2295+591insAAAAAAAAAAAAAAATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18960.hp2 HG02293.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0081 a0001c0001t0001g0160	2	37	0.0541	23	c.85- others(40): Show c.85-24538_85-24516dupAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113163764	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0072 a0004c0005t0001g0072	1	93	0.0108	23	c.85- others(40): Show c.85-10646_85-10624dupAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG02257.hp1 others(1): Show HG01106.hp1 HG01167.hp1 HG02257.hp1 HG02818.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0003c0009 a0003c0046 others(1): Show a0001c0001 a0003c0009 a0003c0046 a0017c0086	a0001c0001t0034 a0003c0009t0004 a0003c0046t0012 others(1): Show a0001c0001t0034 a0003c0009t0004 a0003c0046t0012 a0017c0086t0014	a0001c0001t0034g0058 a0003c0009t0004g0048 a0003c0046t0012g0040 others(1): Show a0001c0001t0034g0058 a0003c0009t0004g0048 a0003c0046t0012g0040 a0017c0086t0014g0009	4	13	0.3077	23	c.332 others(42): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKDD1A_chr15_64906902_64963691	64945631	T T	TATATATA others(16): Show TATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG00738.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	336	0.0060	23	c.116 others(40): Show c.1161+884_1161+885insATATATATATATATATATATATG	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	12/14			chr15	TogoVar
ANKEF1_chr20_10029987_10063303	10056462	T T	TGATAGAT others(16): Show TGATAGATAGATAGATAGATGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02145.hp2 HG02717.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0021 a0002c0003 a0007c0021	a0002c0003t0040 a0007c0021t0026 a0002c0003t0040 a0007c0021t0026	a0002c0003t0040g0014 a0007c0021t0026g0038 a0002c0003t0040g0014 a0007c0021t0026g0038	2	63	0.0317	23	c.81 others(32): Show c.817_*818insAGATGATAGATAGATAGATAGAT	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	11/11	818	INFO_REALIGN_3_PRIME	chr20	TogoVar
ANKFN1_chr17_56148475_56522016	56152303	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0005 a0001c0028t0005	a0001c0028t0005g0054 a0001c0028t0005g0054	1	110	0.0091	23	c.-12 others(34): Show c.-1298_-1297insGTGTGTGTGTGTGTGTGTGTGTG	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding		1171		chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56189170	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 HG02970.hp2 HG03041.hp2	a0001 a0011 a0001 a0011	a0001c0007 a0011c0019 a0001c0007 a0011c0019	a0001c0007t0025 a0011c0019t0006 a0001c0007t0025 a0011c0019t0006	a0001c0007t0025g0036 a0011c0019t0006g0037 a0001c0007t0025g0036 a0011c0019t0006g0037	2	48	0.0417	23	c.-70 others(42): Show c.-70-23410_-70-23409insTTTTTTTTTTTTTTTTTTTTTTT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56280008	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0012 a0002c0002t0016g0063 a0002c0002t0016g0012 a0002c0002t0016g0063	2	86	0.0233	23	c.54- others(40): Show c.54-46197_54-46196insTTTTTTTTTTTTTTTTTTTTTTT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56330240	T T	TCACATGC others(16): Show TCACATGCTCACAATCACAGCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00621.hp1 others(18): Show HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01496.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG03017.hp1 HG03540.hp1 HG03831.hp1 NA18950.hp1 NA18952.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA19054.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0001c0023 others(2): Show a0001c0001 a0001c0009 a0001c0023 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0009t0001 a0001c0023t0023 a0002c0002t0002 a0003c0006t0009 a0003c0006t0018	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0002g0084 a0001c0001t0008g0075 a0001c0001t0008g0101 a0001c0001t0028g0060 a0001c0001t0029g0100 a0001c0009t0001g0018 a0001c0009t0001g0076 a0001c0023t0023g0085 a0002c0002t0002g0041 a0003c0006t0009g0014 a0003c0006t0018g0020 a0003c0006t0018g0057	21	110	0.1909	23	c.188 others(40): Show c.188+3887_188+3888insCATGCTCACAATCACAGCTCACA	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKIB1_chr7_92240974_92406383	92309938	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0026 a0001c0004t0005g0026	1	296	0.0034	23	c.486 others(40): Show c.486+2282_486+2283insTATATATATATATATATATATAT	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19			chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309940	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0015 a0001c0004t0005g0028 a0001c0004t0005g0015 a0001c0004t0005g0028	2	270	0.0074	23	c.486 others(40): Show c.486+2284_486+2285insTATATATATATATATATATATAT	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19			chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp1 HG03139.hp2 others(4): Show HG01192.hp1 HG02895.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp1 NA19075.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0122 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0234 a0001c0001t0004g0165	7	12	0.5833	23	c.691 others(38): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD10_chr13_110873540_110920069	110892436	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0154 a0001c0003t0011g0154	1	359	0.0028	23	c.691 others(38): Show c.691+591_691+592insGTTTTTTTTTTTTTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89264733	C C	CCTGAGCT others(16): Show CCTGAGCTCTTGCTGATGCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 NA21309.hp1 HG00099.hp2 NA21309.hp1	a0001 a0034 a0001 a0034	a0001c0001 a0034c0052 a0001c0001 a0034c0052	a0001c0001t0001 a0034c0052t0003 a0001c0001t0001 a0034c0052t0003	a0001c0001t0001g0069 a0034c0052t0003g0121 a0001c0001t0001g0069 a0034c0052t0003g0121	2	308	0.0065	23	c.37 others(34): Show c.3744_*3745insCCGTGGCATCAGCAAGAGCTCAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding		2896		chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306079	C C	CTCCCACT others(16): Show CTCCCACTCCGCAGACACGCCACT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18950.hp1 NA18979.hp2 others(4): Show HG00438.hp2 NA18950.hp1 NA18979.hp2 NA18994.hp2 NA19005.hp1 NA19056.hp2 NA20752.hp1	a0005 a0031 a0005 a0031	a0005c0005 a0031c0033 a0005c0005 a0031c0033	a0005c0005t0001 a0031c0033t0001 a0005c0005t0001 a0031c0033t0001	a0005c0005t0001g0030 a0005c0005t0001g0032 a0005c0005t0001g0036 others(4): Show a0005c0005t0001g0030 a0005c0005t0001g0032 a0005c0005t0001g0036 a0005c0005t0001g0067 a0005c0005t0001g0072 a0005c0005t0001g0088 a0031c0033t0001g0062	7	306	0.0229	23	c.88- others(36): Show c.88-736_88-735insAGTGGCGTGTCTGCGGAGTGGGA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89384879	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0007 a0003c0015t0001g0007	1	19	0.0526	23	c.-60 others(42): Show c.-60+33382_-60+33404dupAAAAAAAAAAAAAAAAAAAAAAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02165.hp2 HG02258.hp2 others(4): Show HG00099.hp1 HG02165.hp2 HG02258.hp2 HG02683.hp1 HG02809.hp1 HG03834.hp2 NA18984.hp2	a0001 a0003 a0021 others(1): Show a0001 a0003 a0021 a0024	a0001c0001 a0003c0008 a0021c0028 others(1): Show a0001c0001 a0003c0008 a0021c0028 a0024c0049	a0001c0001t0001 a0003c0008t0001 a0021c0028t0001 others(1): Show a0001c0001t0001 a0003c0008t0001 a0021c0028t0001 a0024c0049t0001	a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0237 a0003c0008t0001g0042 a0021c0028t0001g0203 a0024c0049t0001g0265	7	104	0.0673	23	c.-60 others(40): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9259386	A A	AACACATT others(16): Show AACACATTTATGTGTTTAACATAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG02896.hp2 HG00639.hp1 HG01167.hp1 HG02896.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0022 a0007c0027 a0002c0002 a0002c0022 a0007c0027	a0002c0002t0001 a0002c0022t0030 a0007c0027t0004 a0002c0002t0001 a0002c0022t0030 a0007c0027t0004	a0002c0002t0001g0110 a0002c0022t0030g0316 a0007c0027t0004g0309 a0002c0002t0001g0110 a0002c0022t0030g0316 a0007c0027t0004g0309	3	310	0.0097	23	c.566 others(40): Show c.5664+496_5664+518dupACATAGACACATTTATGTGTTTA	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02970.hp1 HG00642.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0138 a0001c0002t0002g0099 a0001c0002t0002g0138	2	53	0.0377	23	c.696 others(42): Show c.6962-1474_6962-1473insATATATATATTTTTTTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0254 a0001c0003t0003g0254	1	52	0.0192	23	c.696 others(42): Show c.6962-1474_6962-1473insATATATATATATATATTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	52	0.0192	23	c.696 others(42): Show c.6962-1474_6962-1473insATATATATATATATATATTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73150974	T T	TTATGCTT others(16): Show TTATGCTTATTAATAATGTACATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0034	23	c.132 others(40): Show c.1329+433_1329+455dupTATGTACATTATTAATAAGCATA	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	7/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73250589	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	63	0.0159	23	c.393 others(40): Show c.393+7664_393+7686dupTTTTTTTTTTTTTTTTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	1/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90912291	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0069 a0003c0003t0029g0069	1	42	0.0238	23	c.55 others(32): Show c.552_*574dupTTTTTTTTTTTTTTTTTTTTTTT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	9/9	574		chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88822544	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01258.hp2 others(13): Show HG00438.hp2 HG00642.hp2 HG01258.hp2 HG01952.hp1 HG02083.hp1 HG02135.hp1 HG03516.hp2 HG04204.hp2 NA18952.hp1 NA18975.hp1 NA18997.hp2 NA19011.hp2 NA19066.hp1 NA19078.hp1 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0012 a0001c0001t0015 a0001c0002t0012	a0001c0001t0015g0048 a0001c0001t0015g0275 a0001c0001t0015g0284 others(11): Show a0001c0001t0015g0048 a0001c0001t0015g0275 a0001c0001t0015g0284 a0001c0001t0015g0298 a0001c0001t0015g0302 a0001c0002t0012g0027 a0001c0002t0012g0128 a0001c0002t0012g0154 a0001c0002t0012g0217 a0001c0002t0012g0222 a0001c0002t0012g0223 a0001c0002t0012g0227 a0001c0002t0012g0277 a0001c0002t0012g0311	16	29	0.5517	23	c.39 others(32): Show c.396_*397insAAAAAAAAAAAAAAAAAAAAAAA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	6/6	396		chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88855305	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp2 NA19062.hp1 others(1): Show HG01891.hp2 HG06807.hp2 NA19062.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0026 a0001c0002t0012 others(1): Show a0001c0001t0016 a0001c0001t0026 a0001c0002t0012 a0001c0002t0030	a0001c0001t0016g0019 a0001c0001t0026g0083 a0001c0002t0012g0217 others(1): Show a0001c0001t0016g0019 a0001c0001t0026g0083 a0001c0002t0012g0217 a0001c0002t0030g0040	4	309	0.0129	23	c.-36 others(34): Show c.-3699_-3698insATATATATATATATATATATATA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding		3462		chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27104503	T T	TGAGACCA others(16): Show TGAGACCAGCCTGGGGAATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02280.hp1 HG02293.hp2 others(4): Show HG01256.hp1 HG02280.hp1 HG02293.hp2 HG02922.hp2 HG02976.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0221 a0001c0001t0001g0222	7	356	0.0197	23	c.-41 others(34): Show c.-4178_-4177insGCTATATTCCCCAGGCTGGTCTC	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4010		chr10	TogoVar

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