Joint Open Genome and Omics Platform (JoGo)

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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
CAMSAP3_chr19_7590863_7623304	7597347	A A	AGATTGGG others(6): Show AGATTGGGCATTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	356	0.0028	13	c.148 others(30): Show c.148+1198_148+1210dupGATTGGGCATTGG	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02895.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02895.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0013 a0001c0002t0001g0090 a0001c0002t0001g0092	4	202	0.0198	13	c.267 others(30): Show c.2671-912_2671-900dupAAAAAAAAAAAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6902072	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0019 a0001c0002t0001g0020 a0001c0001t0012g0019 a0001c0002t0001g0020	2	38	0.0526	13	c.234 others(32): Show c.234+76863_234+76864insCACACACACACAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310671	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	47	0.0213	13	c.438 others(32): Show c.438+61045_438+61046insTCTCTCTCTCTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22			chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01167.hp2 others(23): Show HG00099.hp2 HG00280.hp1 HG01167.hp2 HG01261.hp2 HG01891.hp2 HG01952.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02897.hp1 HG02965.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA19030.hp1 NA19077.hp1 NA19085.hp1 NA20752.hp2	a0003 a0004 a0010 others(1): Show a0003 a0004 a0010 a0037	a0003c0002 a0004c0003 a0004c0041 others(2): Show a0003c0002 a0004c0003 a0004c0041 a0010c0012 a0037c0039	a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 others(4): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0004c0003t0001 a0004c0041t0001 a0010c0012t0001 a0037c0039t0001	a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0085 others(23): Show a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0085 a0003c0002t0001g0107 a0003c0002t0001g0158 a0003c0002t0002g0052 a0003c0002t0002g0081 a0003c0002t0003g0089 a0003c0002t0003g0118 a0004c0003t0001g0045 a0004c0003t0001g0080 a0004c0003t0001g0082 a0004c0003t0001g0087 a0004c0003t0001g0090 a0004c0003t0001g0095 a0004c0003t0001g0102 a0004c0003t0001g0103 a0004c0003t0001g0129 a0004c0003t0001g0132 a0004c0003t0001g0137 a0004c0041t0001g0088 a0010c0012t0001g0043 a0010c0012t0001g0086 a0010c0012t0001g0113 a0010c0012t0001g0128 a0037c0039t0001g0157	26	202	0.1287	13	c.758 others(28): Show c.758-762_758-750dupTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004071	A A	AGAGGGGA others(6): Show AGAGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	388	0.0026	13	c.-14 others(32): Show c.-147+5580_-147+5592dupCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004257	A A	AGTTAAGG others(6): Show AGTTAAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18983.hp1 NA19004.hp2 HG01361.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0099 a0001c0002t0009g0195 a0001c0002t0009g0197 a0001c0002t0007g0099 a0001c0002t0009g0195 a0001c0002t0009g0197	3	386	0.0078	13	c.-14 others(32): Show c.-147+5406_-147+5407insCCCTCTCCTTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004313	G G	GGAGTTAG others(6): Show GGAGTTAGGGAGAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0055 a0001c0002t0013g0055	2	392	0.0051	13	c.-14 others(32): Show c.-147+5350_-147+5351insATCTCCCTAACTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004378	G G	GGGAGAGG others(6): Show GGGAGAGGAGTTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0153 a0001c0002t0005g0153	1	392	0.0026	13	c.-14 others(32): Show c.-147+5285_-147+5286insTTAACTCCTCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004467	A A	AGAGGGGA others(6): Show AGAGGGGAGCTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0027 a0001c0002t0026 a0001c0002t0027	a0001c0002t0026g0219 a0001c0002t0027g0218 a0001c0002t0026g0219 a0001c0002t0027g0218	2	383	0.0052	13	c.-14 others(32): Show c.-147+5196_-147+5197insCCCAGCTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004768	A A	AGAGGGAG others(6): Show AGAGGGAGGTTAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	390	0.0026	13	c.-14 others(32): Show c.-147+4895_-147+4896insCCTAACCTCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004936	A A	AGAGGAGA others(6): Show AGAGGAGAGTTAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	391	0.0026	13	c.-14 others(32): Show c.-147+4727_-147+4728insCCTAACTCTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005013	G G	GAGTTATG others(6): Show GAGTTATGGAGCAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03927.hp2 HG03669.hp1 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	2	392	0.0051	13	c.-14 others(32): Show c.-147+4650_-147+4651insTTGCTCCATAACT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005112	A A	AAGGGGGA others(6): Show AAGGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	382	0.0026	13	c.-14 others(32): Show c.-147+4551_-147+4552insCCTAACTCCCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005154	G G	GGGAGAGG others(6): Show GGGAGAGGAGTTAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	385	0.0026	13	c.-14 others(32): Show c.-147+4497_-147+4509dupTTAACTCCTCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005173	G G	GGGGAGTT others(6): Show GGGGAGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp2 HG01123.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0201 a0001c0002t0011g0217 a0001c0002t0011g0201 a0001c0002t0011g0217	2	391	0.0051	13	c.-14 others(32): Show c.-147+4478_-147+4490dupTTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02040.hp2 NA20752.hp1 others(2): Show HG01433.hp2 HG02040.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0029 a0003c0003t0003 a0001c0001t0011 a0001c0001t0029 a0003c0003t0003	a0001c0001t0011g0036 a0001c0001t0011g0037 a0001c0001t0011g0038 others(2): Show a0001c0001t0011g0036 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0029g0104 a0003c0003t0003g0311	5	110	0.0455	13	c.721 others(28): Show c.721+646_721+658dupAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03017.hp1 HG03209.hp2 others(31): Show HG02280.hp1 HG03017.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18969.hp2 NA18970.hp1 NA18993.hp2 NA19003.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19068.hp1 NA19068.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012	a0001c0001t0003g0006 a0001c0001t0003g0042 a0001c0001t0003g0180 others(22): Show a0001c0001t0003g0006 a0001c0001t0003g0042 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0230 a0001c0001t0008g0018 a0001c0001t0008g0220 a0001c0001t0012g0183 a0001c0001t0012g0229	34	92	0.3696	13	c.-11 others(30): Show c.-11+8391_-11+8403dupTTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17410597	T T	TCTCGCTC others(6): Show TCTCGCTCTGTCGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0076 a0001c0013t0001g0076	1	204	0.0049	13	c.-1- others(30): Show c.-1-10957_-1-10956insTCGCTCTGTCGCC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17438433	G G	GTTTTGTT others(6): Show GTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	123	0.0081	13	c.222 others(32): Show c.222+11747_222+11748insGTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp1 NA18612.hp1 others(1): Show HG02735.hp1 HG02976.hp1 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0002t0001g0112 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0002t0001g0112 a0001c0002t0001g0164	4	44	0.0909	13	c.223 others(28): Show c.223-985_223-973dupAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0085 a0002c0004t0002g0085	1	17	0.0588	13	c.301 others(30): Show c.301-6829_301-6828insTATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12			chr6	TogoVar
CAPN12_chr19_38725192_38749474	38728448	T T	TCCTCCTC others(6): Show TCCTCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19090.hp1 HG03491.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0015 a0004c0008t0001g0131 a0001c0001t0001g0015 a0004c0008t0001g0131	2	328	0.0061	13	c.24 others(24): Show c.2403_*2404insGAGGAGGAGGAGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1743		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736007	C C	CTCGGGGG others(6): Show CTCGGGGGTCTCGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03453.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0012 a0006c0009t0003g0012	3	339	0.0088	13	c.158 others(30): Show c.1583+102_1583+103insCCGAGACCCCCGA	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736026	G G	GGCGGGGC others(6): Show GGCGGGGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03492.hp1 HG01261.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0124 a0001c0001t0001g0083 a0001c0001t0001g0124	2	325	0.0062	13	c.158 others(28): Show c.1583+83_1583+84insTGACCTGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736035	G G	GGCGGGGC others(6): Show GGCGGGGCAGGTCA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp1 NA20905.hp2 HG03017.hp2 HG03710.hp1 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0023 a0003c0005t0004g0027 a0003c0005t0004g0028 a0003c0005t0004g0023 a0003c0005t0004g0027 a0003c0005t0004g0028	3	329	0.0091	13	c.158 others(28): Show c.1583+74_1583+75insTGACCTGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01074.hp2 others(9): Show HG00323.hp1 HG00639.hp1 HG01074.hp2 HG01106.hp2 HG02280.hp2 HG02647.hp1 HG02818.hp1 HG03041.hp1 HG03490.hp1 HG03942.hp2 HG04228.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0025 others(1): Show a0001c0001 a0001c0011 a0001c0025 a0002c0004	a0001c0001t0005 a0001c0011t0003 a0001c0025t0005 others(2): Show a0001c0001t0005 a0001c0011t0003 a0001c0025t0005 a0002c0004t0001 a0002c0004t0018	a0001c0001t0005g0291 a0001c0011t0003g0248 a0001c0011t0003g0249 others(9): Show a0001c0001t0005g0291 a0001c0011t0003g0248 a0001c0011t0003g0249 a0001c0025t0005g0292 a0002c0004t0001g0069 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0018g0071	12	123	0.0976	13	c.307 others(28): Show c.307+170_307+182dupTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02896.hp2 HG02897.hp1 HG01109.hp2 HG02896.hp2 HG02897.hp1	a0006 a0006	a0006c0009 a0006c0028 a0006c0009 a0006c0028	a0006c0009t0003 a0006c0028t0003 a0006c0009t0003 a0006c0028t0003	a0006c0009t0003g0012 a0006c0028t0003g0296 a0006c0009t0003g0012 a0006c0028t0003g0296	3	178	0.0169	13	c.-48 others(24): Show c.-4880_-4879insTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp2 HG02027.hp1 others(12): Show HG00621.hp2 HG01496.hp2 HG02027.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 NA18522.hp2 NA18906.hp1 NA18962.hp1 NA19078.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0003c0004t0002 a0003c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0061 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0061 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0002g0274 a0001c0001t0003g0145 a0001c0001t0004g0144 a0001c0002t0002g0012 a0001c0002t0002g0013 a0003c0004t0002g0060 a0003c0010t0002g0059	15	121	0.1240	13	c.-33 others(30): Show c.-33+1554_-33+1555insAAAAAAAAAAAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN2_chr1_223707539_223781018	223709661	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02080.hp1 others(11): Show HG00597.hp2 HG00609.hp1 HG02080.hp1 HG03831.hp2 HG04204.hp2 NA18944.hp2 NA18950.hp2 NA18962.hp2 NA18974.hp1 NA18978.hp1 NA18999.hp1 NA19077.hp2 NA19091.hp1 NA20905.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0018	a0003c0023 a0003c0044 a0005c0008 others(2): Show a0003c0023 a0003c0044 a0005c0008 a0010c0024 a0018c0045	a0003c0023t0002 a0003c0044t0002 a0005c0008t0004 others(2): Show a0003c0023t0002 a0003c0044t0002 a0005c0008t0004 a0010c0024t0004 a0018c0045t0002	a0003c0023t0002g0113 a0003c0023t0002g0117 a0003c0044t0002g0107 others(11): Show a0003c0023t0002g0113 a0003c0023t0002g0117 a0003c0044t0002g0107 a0005c0008t0004g0010 a0005c0008t0004g0102 a0005c0008t0004g0109 a0005c0008t0004g0111 a0005c0008t0004g0112 a0005c0008t0004g0118 a0005c0008t0004g0119 a0005c0008t0004g0120 a0010c0024t0004g0114 a0010c0024t0004g0116 a0018c0045t0002g0106	14	246	0.0569	13	c.-29 others(24): Show c.-2980_-2979insAAAAAAAAAAAAA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding		2877		chr1	TogoVar
CAPN2_chr1_223707539_223781018	223737721	G G	GGGGGCGG others(6): Show GGGGGCGGGGGGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG03579.hp1 HG02559.hp1 HG02647.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0101 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0101	3	11	0.2727	13	c.308 others(30): Show c.308-6379_308-6378insGGGGCGGGGGGTA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223737721	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0314 a0001c0010t0003g0314	1	9	0.1111	13	c.308 others(30): Show c.308-6379_308-6378insGGGGGGGGGGGTA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223741435	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0006 a0004c0009t0003 a0001c0002t0006 a0004c0009t0003	a0001c0002t0006g0325 a0004c0009t0003g0316 a0001c0002t0006g0325 a0004c0009t0003g0316	2	364	0.0055	13	c.308 others(30): Show c.308-2665_308-2664insTATATATATATAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223746475	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18999.hp2 NA18961.hp1 NA18999.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0313 a0001c0010t0003g0314 a0001c0010t0003g0313 a0001c0010t0003g0314	2	219	0.0091	13	c.561 others(28): Show c.561-513_561-501dupTTTTTTTTTTTTT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77067670	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	379	0.0026	13	c.-36 others(28): Show c.-36+576_-36+577insGTGTGTGTGTGTG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12			chr11	TogoVar
CAPN7_chr3_15201246_15257916	15210596	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp2 HG02109.hp1 others(24): Show HG01167.hp1 HG01192.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18979.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0003t0007	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(22): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0002g0228 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0004g0020 a0001c0001t0004g0049 a0001c0001t0005g0041 a0001c0001t0005g0250 a0001c0001t0005g0252 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0008g0200 a0001c0001t0009g0037 a0001c0001t0009g0208 a0001c0001t0012g0048 a0001c0001t0014g0277 a0001c0001t0017g0045 a0001c0001t0018g0251 a0001c0001t0019g0041 a0001c0003t0007g0061	27	190	0.1421	13	c.103 others(30): Show c.103-1503_103-1491dupTTTTTTTTTTTTT	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPRIN1_chr11_34046731_34107610	34094259	T T	TCTCCTGC others(6): Show TCTCCTGCCTCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01884.hp1 others(24): Show HG00738.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(24): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0064 a0001c0001t0003g0014 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035	27	244	0.1107	13	c.170 others(32): Show c.1706-2209_1706-2197dupGGCCTCCTGCCTC	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp1 NA18970.hp1 others(1): Show HG00544.hp1 HG01243.hp1 NA18970.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0002g0129 others(1): Show a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0002g0129 a0001c0001t0002g0271	4	7	0.5714	13	c.40- others(28): Show c.40-7405_40-7393dupTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18968.hp2 HG03688.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0304 a0001c0002t0004g0312 a0001c0002t0004g0304 a0001c0002t0004g0312	2	223	0.0090	13	c.426 others(28): Show c.426+594_426+606dupAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19387081	G G	GTAGGCCC others(6): Show GTAGGCCCTTTACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(231): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0005t0002 a0001c0006t0003	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0018 others(231): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0020 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0214 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0355 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0032 a0001c0001t0003g0063 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0109 a0001c0001t0003g0132 a0001c0001t0003g0176 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0322 a0001c0001t0003g0350 a0001c0001t0004g0046 a0001c0001t0004g0108 a0001c0001t0004g0147 a0001c0001t0004g0221 a0001c0001t0004g0238 a0001c0001t0004g0257 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0346 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0308 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0008g0017 a0001c0001t0008g0050 a0001c0001t0009g0033 a0001c0001t0009g0060 a0001c0001t0010g0117 a0001c0001t0011g0254 a0001c0001t0013g0164 a0001c0001t0015g0328 a0001c0001t0017g0186 a0001c0001t0018g0043 a0001c0001t0019g0364 a0001c0002t0001g0062 a0001c0002t0001g0098 a0001c0002t0002g0279 a0001c0002t0002g0342 a0001c0002t0002g0352 a0001c0002t0002g0361 a0001c0002t0003g0143 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0225 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0351 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0359 a0001c0002t0003g0362 a0001c0003t0001g0172 a0001c0005t0002g0236 a0001c0006t0003g0099	234	362	0.6464	13	c.94- others(28): Show c.94-1456_94-1455insTGTAAAGGGCCTA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG03225.hp2 others(2): Show HG02145.hp1 HG02970.hp1 HG03225.hp2 HG03669.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0296 a0001c0001t0001g0314 a0001c0001t0007g0115	5	34	0.1471	13	c.93+ others(28): Show c.93+2788_93+2800dupTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2910718	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02523.hp2 HG00741.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0289 a0001c0001t0001g0126 a0001c0001t0001g0289	2	310	0.0065	13	c.314 others(30): Show c.3145-554_3145-553insGTGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAGAAA others(6): Show CAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp2 HG01081.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0052 a0001c0001 a0001c0052	a0001c0001t0001 a0001c0052t0001 a0001c0001t0001 a0001c0052t0001	a0001c0001t0001g0280 a0001c0052t0001g0270 a0001c0001t0001g0280 a0001c0052t0001g0270	2	131	0.0153	13	c.685 others(30): Show c.685-1612_685-1611insTTTTTTTTTCTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(6): Show ATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	292	0.0034	13	c.-12 others(34): Show c.-126+20731_-126+20732insATATATATAAATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040328	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0094 a0001c0016t0001g0094	1	202	0.0050	13	c.-12 others(32): Show c.-126+3338_-126+3339insAAAAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80170800	C C	CTCCACCC others(6): Show CTCCACCCCTCCCG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0066 a0003c0066	a0003c0066t0001 a0003c0066t0001	a0003c0066t0001g0360 a0003c0066t0001g0360	1	374	0.0027	13	c.-69 others(30): Show c.-690+747_-690+748insACCCCTCCCGTCC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00609.hp1 HG01069.hp2 HG01070.hp1 HG01168.hp2 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02074.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18957.hp2 NA18968.hp1 NA18984.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019 a0026	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0003c0013 a0004c0008 a0005c0004 a0006c0015 a0008c0018 a0019c0047 a0026c0043	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(9): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0002c0002t0001 a0002c0005t0001 a0003c0013t0002 a0004c0008t0001 a0005c0004t0001 a0006c0015t0001 a0008c0018t0001 a0019c0047t0001 a0026c0043t0001	a0001c0001t0002g0256 a0001c0007t0002g0257 a0001c0007t0002g0280 others(20): Show a0001c0001t0002g0256 a0001c0007t0002g0257 a0001c0007t0002g0280 a0001c0007t0002g0294 a0001c0007t0002g0295 a0001c0007t0002g0301 a0001c0007t0004g0302 a0002c0002t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0298 a0003c0013t0002g0283 a0004c0008t0001g0270 a0004c0008t0001g0271 a0004c0008t0001g0279 a0004c0008t0001g0297 a0004c0008t0001g0313 a0004c0008t0001g0318 a0005c0004t0001g0299 a0005c0004t0001g0312 a0006c0015t0001g0300 a0008c0018t0001g0255 a0019c0047t0001g0296 a0026c0043t0001g0269	23	157	0.1465	13	c.-68 others(27): Show c.-689-20_-689-8dupTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93115479	G G	GGGAGGGG others(6): Show GGGAGGGGGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA19012.hp1 HG01978.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	40	0.0500	13	c.23 others(24): Show c.2372_*2373insGGAGGGGGGTGAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2197		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115479	G G	GGGGAGGG others(6): Show GGGGAGGGGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	1	39	0.0256	13	c.23 others(24): Show c.2372_*2373insGGGAGGGGGTGAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2197		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115482	A A	AGGGGGTG others(6): Show AGGGGGTGAAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	356	0.0028	13	c.23 others(24): Show c.2375_*2376insGGGGGTGAAGGAG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2200		chr9	TogoVar

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