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
AP2A2_chr11_920870_1017240	980265	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	268	0.0037	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980265	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	268	0.0037	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	268	0.0037	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0045 a0001c0001t0016g0045	1	268	0.0037	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(54): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp1 HG02165.hp1 HG02293.hp1 HG02683.hp1 HG02965.hp1 HG02970.hp1 HG03471.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19007.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp1 NA19082.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0009 a0020 a0022	a0001c0001 a0001c0006 a0006c0032 others(4): Show a0001c0001 a0001c0006 a0006c0032 a0007c0029 a0009c0028 a0020c0021 a0022c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0006t0001 a0006c0032t0001 a0007c0029t0005 a0009c0028t0001 a0020c0021t0001 a0022c0027t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(54): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0263 a0001c0001t0002g0053 a0001c0001t0003g0040 a0001c0001t0005g0019 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0103 a0001c0001t0013g0063 a0001c0001t0017g0069 a0001c0006t0001g0043 a0006c0032t0001g0006 a0007c0029t0005g0081 a0009c0028t0001g0049 a0020c0021t0001g0262 a0022c0027t0001g0121	57	268	0.2127	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(455): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	268	0.0037	462	c.604 others(477): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980446	C C	CCTGGAGC others(455): Show CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGG TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	268	0.0037	462	c.604 others(477): Show c.604-736_604-735insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTTCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980454	G G	GGTGACAG others(455): Show GGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGG TGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCG GTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGT GCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGG TGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTG CCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGT GACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGC CGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTG ACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCC GTGTCCTGGAGCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	268	0.0037	462	c.604 others(477): Show c.604-736_604-735insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCAGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(455): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACATACGTATTAATACATATATGTATAAATACATACATATTTATACATAT ATGTATACATACATATTTATACATATATATGTATAAATACATACATATTT ATACATATATATGTATAAATACATACATATTTATACATATATATGTATAA ATACATACATATTTATACATATATATGTATAAATACGTACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0071 a0001c0001t0061g0071	1	256	0.0039	462	c.39 others(471): Show c.393_*394insGTATTAATACATATATGTATAAATACATACGTATTA ATACATATATGTATAAATACATACATATTTATACATATATGTATACATAC ATATTTATACATATATATGTATAAATACATACATATTTATACATATATAT GTATAAATACATACATATTTATACATATATATGTATAAATACATACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATGTATAAATACGTACATATTTATACATAT ATGTATAAATACATATACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(455): Show CAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATA GCCAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATGGG TAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGG ATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAG GATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGA TGGGTAGCCAGGTGCTTCCTGAAAGGAGGCGCACTCTCACTGTTCCTCTG GAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTC TGGATGGGTAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	363	0.0028	462	c.352 others(481): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGTGCACTCTCACT GTTCCTCTGGAGGATAGCCAGGTGCATCCTGAAAGGAGGTGCACTCTCAC TGTTCCTCTGGAGGATAGCCAGGTGCATCCTGAAAGGAGGTGCACTCTCA CTGTTTTTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCT CACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTC TCACTGTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACT CTCACTGTTTCTCTGGATGGGTAGCCAGGTGCTTCCTGAAAGGAGGCGCA CTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGC ACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTG CACTCTCACTGTTTTTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(455): Show TGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGG GGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0286 a0001c0006t0007g0286	1	298	0.0034	462	c.955 others(479): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(455): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGGGGGGTGGAGGGAGGGAAGGGAGGGA GGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0131 a0006c0010t0001g0131	1	184	0.0054	462	c.784 others(477): Show c.784-310_784-309insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGGGGGTGGAGGGAGGGAAGGGAGGGAGGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(455): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0039 a0021c0039	a0021c0039t0005 a0021c0039t0005	a0021c0039t0005g0039 a0021c0039t0005g0039	1	328	0.0031	462	c.-23 others(473): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(455): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	462	c.-23 others(473): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(455): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0039 a0003c0060t0039	a0003c0060t0039g0317 a0003c0060t0039g0317	1	338	0.0030	462	c.245 others(479): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(455): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03688.hp2 HG04184.hp2 HG03453.hp1 HG03688.hp2 HG04184.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0016 a0009c0078 a0002c0002 a0009c0016 a0009c0078	a0002c0002t0026 a0009c0016t0006 a0009c0078t0012 a0002c0002t0026 a0009c0016t0006 a0009c0078t0012	a0002c0002t0026g0241 a0009c0016t0006g0167 a0009c0078t0012g0074 a0002c0002t0026g0241 a0009c0016t0006g0167 a0009c0078t0012g0074	3	338	0.0089	462	c.245 others(479): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(455): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02622.hp1 others(1): Show HG02055.hp2 HG02257.hp2 HG02622.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0209 a0002c0002t0001g0284 a0002c0002t0002g0086 others(1): Show a0002c0002t0001g0209 a0002c0002t0001g0284 a0002c0002t0002g0086 a0002c0002t0002g0087	4	338	0.0118	462	c.245 others(479): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC92_chr12_123930626_123977831	123945973	C C	CGCTGGCA others(455): Show CGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCA TCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGC CATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATT TCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGTCC ATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGAT CTTGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGG CATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCC GCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCA TTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGT CCATGATGATCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	250	0.0040	462	c.-59 others(479): Show c.-59-1610_-59-1609insAAGATCATCATGGACTGGAAATGGATGG CGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGAT GCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAA GATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCATCA TGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCATCATGGACTGG AAATGGATGGCGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGAT GGCGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGG ATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGC AAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCAT CATGGACTGGAAATGGATGGCGGGGGATGCCAGC	CCDC92	ENSG00000119242.9	transcript	ENST00000238156.8	protein_coding	1/4			chr12	TogoVar
CEP170B_chr14_104860268_104901747	104884845	G G	GGGGGGTG others(455): Show GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAA CGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ATCGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAACGGGGGGGTGGAGGTGATGCCGGGGGGTGGCGAGTGAGAGCCCTCG TGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTC GTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCT CGTGGGGAATCGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCC CTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGC ACTCGTGGGGAAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0002 a0001c0094t0002	a0001c0094t0002g0226 a0001c0094t0002g0226	1	328	0.0031	462	c.177 others(479): Show c.1770+301_1770+302insTGGAGGTGATGCCGGGGGTGGCGAGTGA GAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAATCGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGA GTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGGTGG CGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTG GCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGT GGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGGTGGAGGCGATGCCGGGG GTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGG GGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(455): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19010.hp1 NA19004.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0001 a0001c0002t0012g0001 a0001c0002t0001g0001 a0001c0002t0012g0001	2	354	0.0057	462	c.69 others(473): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCT CCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTT CCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(455): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	246	0.0041	462	c.212 others(479): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(455): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	246	0.0041	462	c.212 others(479): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914814	A A	ACCCCGGC others(455): Show ACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0075 a0010c0075	a0010c0075t0002 a0010c0075t0002	a0010c0075t0002g0004 a0010c0075t0002g0004	1	246	0.0041	462	c.212 others(481): Show c.2121-1557_2121-1556insCGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CHAT_chr10_49609037_49672942	49621964	G G	GAGGGAGG others(455): Show GAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAG GAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGAT GGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAG GGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAA GGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGA GGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGG AAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGG AAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGG GAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGG GAGGGGAGGCAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	418	0.0024	462	c.699 others(475): Show c.699-57_699-56insAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAG AGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGA AGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAG AAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGA GGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAG GGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAG GAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGGCAGAAGGGAGGGAGAA GGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGGAAGGAGGGAGGGGAGG CAGAAGGGAGGGAGAAGGGAGGGAAGAGGAAGGAGATGGAAGGAAGAGGG AAGGAGGGAGGGGAGGCAGAAGGGAGGGAG	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647698	C C	CGCGGGGT others(455): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCAACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCAACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCAACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CTGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGACACCCAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19240.hp2 HG02818.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0352 a0001c0002t0013g0353 a0001c0002t0013g0352 a0001c0002t0013g0353	2	392	0.0051	462	c.253 others(477): Show c.253-368_253-367insACTGGGTGTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTCTCCACGTCGGCAGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTTGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTTGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTTGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647782	C C	CGCGGGGT others(455): Show CGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02976.hp2 HG02109.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0001g0015 a0001c0001t0001g0175	3	392	0.0077	462	c.253 others(477): Show c.253-452_253-451insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTGTC CACGTCGGCGGCCTTTTCTCCACGGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647900	A A	AGACCCAG others(455): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	392	0.0026	462	c.253 others(477): Show c.253-570_253-569insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(455): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	392	0.0026	462	c.253 others(477): Show c.253-571_253-570insCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(455): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	392	0.0026	462	c.253 others(477): Show c.253-571_253-570insCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(455): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGC AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01517.hp1 HG01081.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	392	0.0051	462	c.253 others(477): Show c.253-571_253-570insCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647984	G G	GGACCCAG others(455): Show GGACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCAGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	392	0.0026	462	c.253 others(477): Show c.253-654_253-653insTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCC GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACTGACCCCGCGC TGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCTC CACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGG CCGCCTTTTCTCCACGGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648286	C C	CGCGGGGT others(455): Show CGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCAGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCC AGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCAGTGGAGAAAAGG CGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0228 a0001c0001t0015g0228	1	392	0.0026	462	c.253 others(477): Show c.253-956_253-955insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACTGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCA CGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTCCCCACGTCGGCC GCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACTGACCCCGCGC TGGGTCTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTCTC CACGTCGGCCGCCTTTTCTCCACGGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(455): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	392	0.0026	462	c.252 others(477): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(455): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18939.hp2 NA18957.hp1 others(2): Show HG01934.hp1 NA18939.hp2 NA18957.hp1 NA18970.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0328 others(2): Show a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0340	5	392	0.0128	462	c.252 others(477): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(455): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	392	0.0026	462	c.252 others(477): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(455): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	392	0.0026	462	c.252 others(477): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCC CACGTCGGCCGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(455): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	392	0.0026	462	c.252 others(477): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTCGGCCGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(455): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GAGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03041.hp1 HG03225.hp1 HG01167.hp2 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0014 a0001c0001t0001g0151	3	392	0.0077	462	c.252 others(477): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCTCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTCGGCCGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(455): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAA TATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATAT AAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	402	0.0025	462	c.80- others(477): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAA TATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(455): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCCCA CTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGC CCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCC CTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0178 a0001c0034t0002g0178	1	428	0.0023	462	c.217 others(479): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGC TGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGG CTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGG CCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(455): Show CATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATA TGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACAT ATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATAT GTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACATA TAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATATG TACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	232	0.0043	462	c.762 others(481): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATA TGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACAT ATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATAT GTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACATA TAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTATATG TACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACATAT AAAATGTCTTTATATGTACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(455): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATATGATACAA ATGATATATATGATATATATATGATACAAATGATATATATGATATATATG ATATATATCAGATATATATATCATATATATCATTTGTATCATATATATAT CATATATATCATATGTATCATATATATCATGTATATATCATATATATCAT ATATATCATATATGTATTCATATATATCATATATATTCATATATAATATA TATTCATATATCATATATATTCATATATATCATATATATTCATATATATA TCATATATATTCATATATATATCATATATATTCATATATATCATATATAT TCATATATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG02886.hp2 HG00099.hp2 HG01106.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0118 a0001c0002t0002g0059 a0001c0002t0008g0160 a0001c0001t0001g0118 a0001c0002t0002g0059 a0001c0002t0008g0160	3	182	0.0165	462	c.267 others(479): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATATGATACAAATGATATATATGATATATATATGATACAAAT GATATATATGATATATATGATATATATCAGATATATATATCATATATATC ATTTGTATCATATATATATCATATATATCATATGTATCATATATATCATG TATATATCATATATATCATATATATCATATATGTATTCATATATATCATA TATATTCATATATAATATATATTCATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATATCATATATAT TCATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(455): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0017 a0001c0062t0001g0017	1	344	0.0029	462	c.85- others(479): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1284662	T T	TTTTTTTT others(455): Show TTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGG ATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAAT ACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCC AGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAA TTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAA GACTAGTTTTTGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	159	0.0063	462	c.77- others(477): Show c.77-1096_77-1095insTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGA GATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTT TGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCA GCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAAT TTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAG ACTAGTTTTTGATTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284704	T T	TCCCAGGC others(455): Show TCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCT TTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTG CAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTT ATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTT TTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTC CCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCC AAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATG TTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTTACTCTGTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	159	0.0063	462	c.77- others(477): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGC TATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTGAGATGG AGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCCA AGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATTT TTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTT TTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284738	C C	CACTGCAG others(455): Show CACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT ATATTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTT CTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCA GAAATACACCACCATGCCAAGCTAATTTAATTTTTTTTTTTAATTTTATA GAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	159	0.0063	462	c.77- others(477): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAATT TTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTT TTTGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTU2_chr16_88701503_88720396	88712921	C C	CCCCCTTC others(455): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC CTTTCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG04115.hp1 others(1): Show HG02257.hp2 HG03139.hp2 HG04115.hp1 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0005 a0002c0003t0001 a0002c0003t0005	a0002c0003t0001g0126 a0002c0003t0001g0128 a0002c0003t0005g0157 others(1): Show a0002c0003t0001g0126 a0002c0003t0001g0128 a0002c0003t0005g0157 a0002c0003t0005g0158	4	418	0.0096	462	c.737 others(475): Show c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTTCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DIP2C_chr10_269201_694668	418105	C C	CCACCTGC others(455): Show CCACCTGCACCTGTCAGAGCTCGGATAGGCCTCCCTGTCCACCTGCACCT GTCAGGGTTCGAATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGG ATAGGCCTCCCTGTCTGCCTGCGCCTGTCAGGGCTCGGATAGGCCTCCCT GTCCACCTGTTCCTGTCAGAGCTCGGATAGGCCTCCCTGTCCACCTGCAC CTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTT CGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCC CTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGC ACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	462	c.739 others(477): Show c.739+959_739+960insCAGGTGGACAGGGAGGCCTATCCGAGCCCT GACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGG TGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGG CCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCC CTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACA GGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGA GGCCTATCCGAGCTCTGACAGGAACAGGTGGACAGGGAGGCCTATCCGAG CCCTGACAGGCGCAGGCAGACAGGGAGGCCTATCCGAGCCCTGACAGGTG CAGGTGGACAGGGAGGCCTATTCGAACCCTGACAGGTGCAGGTGGACAGG GAGGCCTATCCGAGCTCTGACAGGTGCAGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522636	C C	CAGGACCC others(455): Show CAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCC AGATCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAG CCAGGACCCAGCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0244 a0003c0008t0013g0244	1	358	0.0028	462	c.236 others(481): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGATCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1206333	G G	GTGAGCGG others(455): Show GTGAGCGGTTAATCTCCAGCCATCTGTGGGCGGGGGTAGACTGTGAGTGG TTAATCTCCAGCCATCCGTGGACTGGGGTAGACTGTGAGCGGTTAATCTC CAGCCATCCGTGGACTAGGGTAGACTGTGAGCGGTTAATCTCCAGCCATC CGTGGCCTGGGGCAGACGGTGAGTGATTAATCTCCAGCCATCCATGGGCG GGGGTAGACTCTGAGTGGTTAATCTCCAGCCATCCGTGGACTGGGGTAGA CTGTGAGTGGTTAATCTCTAGCCATCCGTGGGCTGGGGTAGACTGTGAGT GGTTAATCTCCAGCCATCCGTGGACTGGGGTAGACTGTGAGCGGTTAATC TCCAGCCATCCGTGGACTGGGGTAGACTGTGAGTGATTAATCTCCAGCCA TCCGTGGACTGGGGTAGACTGTGAGTGGTTAATCTCCAGCCATCCATGGG CGGGGGTAGACTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0002 a0003c0008t0015g0002	1	40	0.0250	462	c.74- others(479): Show c.74-52515_74-52514insGCGGTTAATCTCCAGCCATCTGTGGGCG GGGGTAGACTGTGAGTGGTTAATCTCCAGCCATCCGTGGACTGGGGTAGA CTGTGAGCGGTTAATCTCCAGCCATCCGTGGACTAGGGTAGACTGTGAGC GGTTAATCTCCAGCCATCCGTGGCCTGGGGCAGACGGTGAGTGATTAATC TCCAGCCATCCATGGGCGGGGGTAGACTCTGAGTGGTTAATCTCCAGCCA TCCGTGGACTGGGGTAGACTGTGAGTGGTTAATCTCTAGCCATCCGTGGG CTGGGGTAGACTGTGAGTGGTTAATCTCCAGCCATCCGTGGACTGGGGTA GACTGTGAGCGGTTAATCTCCAGCCATCCGTGGACTGGGGTAGACTGTGA GTGATTAATCTCCAGCCATCCGTGGACTGGGGTAGACTGTGAGTGGTTAA TCTCCAGCCATCCATGGGCGGGGGTAGACTCTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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