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
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(292): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCC ACCTCCCCCCACCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTC CCCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	5	0.2000	299	c.39+ others(316): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC ACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCTACCCCCCACCCC CCACCTCCCCCCACCGCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112872948	G G	GTGGTGTG others(292): Show GTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTT GTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(65): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02622.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0019 a0001c0020 a0001c0040 a0002c0003 a0002c0025 a0003c0008 a0005c0032 a0007c0034	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(29): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0031 a0001c0002t0034 a0001c0002t0036 a0001c0002t0041 a0001c0002t0059 a0001c0002t0061 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0017 a0001c0005t0020 a0001c0005t0037 a0001c0005t0038 a0001c0005t0063 a0001c0005t0065 a0001c0005t0073 a0001c0019t0008 a0001c0020t0008 a0001c0040t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0035 a0002c0025t0002 a0003c0008t0005 a0005c0032t0001 a0007c0034t0032	a0001c0002t0001g0019 a0001c0002t0001g0092 a0001c0002t0001g0102 others(65): Show a0001c0002t0001g0019 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0180 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0089 a0001c0002t0002g0190 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0031g0097 a0001c0002t0034g0179 a0001c0002t0036g0042 a0001c0002t0041g0212 a0001c0002t0059g0127 a0001c0002t0061g0201 a0001c0004t0001g0017 a0001c0004t0001g0107 a0001c0004t0001g0224 a0001c0004t0002g0208 a0001c0005t0001g0039 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0223 a0001c0005t0002g0081 a0001c0005t0002g0095 a0001c0005t0002g0128 a0001c0005t0009g0174 a0001c0005t0017g0080 a0001c0005t0017g0100 a0001c0005t0020g0144 a0001c0005t0020g0247 a0001c0005t0037g0103 a0001c0005t0038g0172 a0001c0005t0063g0130 a0001c0005t0065g0173 a0001c0005t0073g0126 a0001c0019t0008g0051 a0001c0020t0008g0063 a0001c0040t0001g0216 a0002c0003t0001g0040 a0002c0003t0001g0059 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0090 a0002c0003t0002g0114 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0183 a0002c0003t0002g0192 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0231 a0002c0003t0009g0242 a0002c0003t0035g0031 a0002c0025t0002g0037 a0003c0008t0005g0249 a0005c0032t0001g0234 a0007c0034t0032g0075	68	221	0.3077	299	c.305 others(316): Show c.3058-625_3058-624insTGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAG GTGTGGCTTTGTCTTCCTGAA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29			chr13	TogoVar
AUTS2_chr7_69593475_70798506	70496994	A A	ACCACATA others(292): Show ACCACATACACAGGCACACACACACACCCCACACATGCACACGTCACATC AGCAACGATCACACACCCCACTCACACCACGTACACAGTCACACACGCAC ACACCCCACACATGCACACGTCACATCAGCGTCGATCACACACCCCACTC ACACCACGTACACAGTCAGACACACACACACACCCCACACATGCACACGT CACATCAGCATCGATCACACACTCCACGTACACAGACACACACACACACA CCCCACACACATGCACACGTCACATCAGCGTCGATCACACACCCCTCACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(19): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG02055.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002 a0005c0009	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(15): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0005c0009t0001	a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0005g0020 others(19): Show a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0007g0040 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0001t0032g0016 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0005c0009t0001g0043	22	69	0.3188	299	c.690 others(318): Show c.690+61214_690+61215insCACATACACAGGCACACACACACACC CCACACATGCACACGTCACATCAGCAACGATCACACACCCCACTCACACC ACGTACACAGTCACACACGCACACACCCCACACATGCACACGTCACATCA GCGTCGATCACACACCCCACTCACACCACGTACACAGTCAGACACACACA CACACCCCACACATGCACACGTCACATCAGCATCGATCACACACTCCACG TACACAGACACACACACACACACCCCACACACATGCACACGTCACATCAG CGTCGATCACACACCCCTCACGC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70496994	A A	ACCACATA others(292): Show ACCACATACACAGGCACACACACACACCCCACACATGCACACGTCACATC AGCATCGATCACACACCCCACTCACACCACGTACACAGTCACACACGCAC ACACCCCACACATGCACACGTCACATCAGCGTCGATCACACACCCCACTC ACACCACGTACACAGTCAGACACACACACACACCCCACACATGCACACGT CACATCAGCATCGATCACACACTCCACGTACACAGACACACACACACACA CCCCACACACATGCACACGTCACATCAGCGTCGATCACACACCCCTCACG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG01175.hp2 others(4): Show HG00597.hp1 HG01081.hp2 HG01175.hp2 HG01934.hp1 HG02258.hp1 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0003t0008	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 a0001c0001t0005g0015 a0001c0001t0014g0070 a0001c0001t0029g0022 a0001c0003t0008g0039	7	54	0.1296	299	c.690 others(318): Show c.690+61214_690+61215insCACATACACAGGCACACACACACACC CCACACATGCACACGTCACATCAGCATCGATCACACACCCCACTCACACC ACGTACACAGTCACACACGCACACACCCCACACATGCACACGTCACATCA GCGTCGATCACACACCCCACTCACACCACGTACACAGTCAGACACACACA CACACCCCACACATGCACACGTCACATCAGCATCGATCACACACTCCACG TACACAGACACACACACACACACCCCACACACATGCACACGTCACATCAG CGTCGATCACACACCCCTCACGC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82958870	T T	TGTATACT others(292): Show TGTATACTGTGTGGGGGTGTATGGTGTGTGTGTATACTGTGTGGGGGTGT ATGGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTA CACTGGGGGTGTATGGTGTGTGTGTGTGTGTACACTGGGGGTGTATGGTG TGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTATACTGTGTGGGG GTGTATGTGTGTGTGTGTACACTGTGGGGGTGTATGGTGTGTGTGTGTGT ATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTACACTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0145 a0001c0011t0001g0145	1	266	0.0038	299	c.681 others(316): Show c.681-1377_681-1376insCATACACCCCCAGTGTACACACACACAC ACCATACACCCCCACACAGTATACACACACACACACCATACACCCCCACA GTGTACACACACACACATACACCCCCACACAGTATACACACACACCATAC ACCCCCACACAGTATACACACACACCATACACCCCCAGTGTACACACACA CACACACCATACACCCCCAGTGTACACACACACACACCATACACCCCCAC ACAGTATACACACACACACCATACACCCCCACACAGTATACACACACACC ATACACCCCCACACAGTATAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(292): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	231	0.0043	299	c.460 others(316): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971698	A A	ACAGGGGC others(292): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0068 a0001c0001t0011g0068	1	253	0.0040	299	c.460 others(316): Show c.460-5953_460-5952insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTGCCC others(292): Show TCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCT TCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCC CCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCC CCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTC CCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCT CCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 HG02602.hp2 others(3): Show HG02015.hp2 HG02083.hp2 HG02602.hp2 HG04204.hp2 NA18963.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0270	6	401	0.0150	299	c.910 others(314): Show c.910-574_910-573insGCCCCCTTCCCCCTTGCCCCCTTCTCCCCT TCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCC TTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCT TCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTC CCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCC TTTTCCCCCCTTCCCCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(292): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	312	0.0032	299	c.-42 others(310): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(292): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGC CCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGA GGGGGGGGACGGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGGACGGGGG TCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTG TGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGCCC TGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0126 a0001c0002t0063g0126	1	165	0.0061	299	c.30 others(310): Show c.3065_*3066insTCACACCCCTCGGGACAGGACCCCGTCCCCCCCT CAGACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCCGTCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCTCAC ACCCCTCGGGACAGGACCCCCGTCCCCCCCCTCACACCCCTCGGGACAGG ACCCCCGTCCCCCCCCTCACACCCCTCGGGACAGGGCCCCGTCCCCCCCA CACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGGCAGGA CCCCGTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	405055	T T	TGAGGGGG others(292): Show TGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTC CTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGT CCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	280	0.0036	299	c.20 others(310): Show c.2040_*2041insCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCC CTCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTCAGGG CAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCC TCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGG ACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCC ACACCCCTCAGGACAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGG ACCCCATCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		389		chr19	TogoVar
CABLES1_chr18_23130485_23265470	23174474	T T	TAAAACTT others(292): Show TAAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0010 a0001c0001t0047g0010	1	273	0.0037	299	c.846 others(318): Show c.846-14349_846-14348insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGAAAACTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62398009	T T	TATGGCGG others(292): Show TATGGCGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGG TGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGCGGTGGTGGTGATGGTTATGACGGTGGTGATGGT GGTGGTGGTGACGGTGATGGTGGTAATGGTGGTGGTGGTGACGGTGGTGA TGATGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGG TGGTGGTGACGGTGGTGATGGTGATGATGGTGATGGTTATGACGGTGGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0159 a0001c0001t0016g0159	1	356	0.0028	299	c.363 others(316): Show c.363-1418_363-1417insCACCACCGTCATAACCATCACCATCATC ACCATCACCACCGTCACCACCACCACCATCACATCACCATCACCACCATC ATCACCACCACCATCACCATCATCACCACCGTCACCACCACCACCATTAC CACCATCACCGTCACCACCACCACCATCACCACCGTCATAACCATCACCA CCACCGCCATCACCACCACCACCACCACCACCATCACCACCACCACCACC GTCACCACCACCGTCACCACCACCATCGCCATCACCACCATCACCATCAC TGTCACCACCACCACCGCCAT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(292): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGAGGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG01928.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0322 a0001c0001t0001g0154 a0001c0001t0001g0322	2	67	0.0299	299	c.104 others(318): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(292): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGATGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19000.hp2 NA18969.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0240 a0001c0001t0002g0228 a0001c0001t0002g0240	2	67	0.0299	299	c.104 others(318): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCATCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182074	A A	ACTCACAC others(292): Show ACTCACACACACACACACTCACATACAGACACAACCACACCACACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACACAACCACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	428	0.0023	299	c.193 others(316): Show c.1938+755_1938+756insTCACACACACACACACTCACATACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACATACACACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACACATACAC ACTCACATACACAACCACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACTC others(292): Show CCACACTCACACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACACATACAGACACAACCACACCACACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACACACACACACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACACACACACACAGACACAAC CACACCACACACACACACATACACACTCACATACAGATACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	167	0.0060	299	c.193 others(316): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACACACAGACACAACCACACCACACACACACACATACACACTCACATAC AGATACAACCACACCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(292): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0312 a0001c0022t0001g0312	1	356	0.0028	299	c.-22 others(316): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZA3_chr12_18733119_18744188	18743242	T T	TAGAAAAT others(292): Show TAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	383	0.0026	299	c.40 others(310): Show c.4074_*4075insAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4055		chr12	TogoVar
CCNG2_chr4_77152207_77175060	77160303	T T	TGCATGGA others(292): Show TGCATGGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGTGCCCGCCGCTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0114 a0001c0008t0037g0114	1	426	0.0023	299	c.277 others(314): Show c.277-404_277-403insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGTGCCCGCCGCTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGCATGGAAATTTTT	CCNG2	ENSG00000138764.15	transcript	ENST00000316355.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501837	A A	AAAATATA others(292): Show AAAATATATATATATATATATATATATATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA TACTCATATATATATATATATATACTCATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0100 a0009c0017t0003g0100	1	361	0.0028	299	c.232 others(320): Show c.2326-11612_2326-11611insAAATATATATATATATATATATAT ATATATATACACTCATATATATATATATACTCATATATATATATATATAC TCATATATATATATATATATACTCATATATATATATACTCATATATATAT ATATATACTCATATATATATATACTCATATATATATATATACTCATATAT ATATATACTCATATATATATATACTCATATATATATATATACTCATATAT ATATATATACTCATATATATATATATACTCATATATATATATATATATAC TCATATATATATATATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CDH13_chr16_82621969_83805640	83031167	T T	TATATACA others(292): Show TATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACA TGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCG CATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCATG TATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATA CACCATATACATGCGCATGTATACACCATATACATGCGCATGTATACACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01257.hp1 HG02895.hp2 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0004 a0001c0001t0001 a0001c0001t0002 a0001c0007t0004	a0001c0001t0001g0108 a0001c0001t0002g0039 a0001c0001t0002g0054 others(1): Show a0001c0001t0001g0108 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0007t0004g0109	4	23	0.1739	299	c.158 others(314): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTAT ACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATACAC CATATACATGCGCATGTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP46_chr10_132803392_132947570	132888553	C C	CCCTGCCA others(292): Show CCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTTCA CCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCA CCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCAGCCTGCAC CTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCAC CTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02895.hp1 others(2): Show HG00741.hp1 HG01891.hp1 HG02895.hp1 HG03209.hp1 HG06807.hp2	a0015 a0020 a0053 a0015 a0020 a0053	a0015c0022 a0020c0024 a0053c0063 a0015c0022 a0020c0024 a0053c0063	a0015c0022t0001 a0020c0024t0001 a0053c0063t0001 a0015c0022t0001 a0020c0024t0001 a0053c0063t0001	a0015c0022t0001g0211 a0015c0022t0001g0212 a0020c0024t0001g0215 others(2): Show a0015c0022t0001g0211 a0015c0022t0001g0212 a0020c0024t0001g0215 a0020c0024t0001g0216 a0053c0063t0001g0217	5	244	0.0205	299	c.330 others(318): Show c.3305-2595_3305-2594insTGCAGGCGGCAGGGGTGAAGGTGGCA GGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGA AGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCTGCAGGGGTGAAGGTGGC AGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGG GGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAG GCGGCAGGGGTGAAGGTGGCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(292): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0176 a0002c0003t0001g0176	1	171	0.0058	299	c.212 others(316): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CLASP2_chr3_33491245_33723254	33681125	A A	AAAAAAAA others(292): Show AAAAAAAAAAAAAAAAGAATAAAGTAATTTCAATATAAATTTAGAAAAGA TATAATGTATACATACACACGCACACACACAAATACATATGTTAACATCA CTTCTTTCTTTCATCCATAAAATGATGTAGAATTTACTCAAATGGAATTG TTAGCCCTGGAAGTAGAAAATGAATAGATGATCAAGTCAACAAAAAGCTT ATTTCTGAGACAATCTTATTACCAGCAAATAATTGGTATTGGCAAACAAC TGCTGCTAAGAGAGACAATCAGCCTGGGTGACAGAGCGAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(42): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00609.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01952.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp1 NA18980.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19091.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0017 a0003c0009 others(1): Show a0001c0001 a0001c0017 a0003c0009 a0006c0013	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 others(3): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0017t0003 a0003c0009t0003 a0006c0013t0003	a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0029 others(42): Show a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0258 a0001c0001t0013g0056 a0001c0001t0015g0047 a0001c0017t0003g0031 a0003c0009t0003g0048 a0003c0009t0003g0164 a0006c0013t0003g0035	45	276	0.1630	299	c.644 others(316): Show c.644+3233_644+3234insGAGATGGAGTCTCGCTCTGTCACCCAGG CTGATTGTCTCTCTTAGCAGCAGTTGTTTGCCAATACCAATTATTTGCTG GTAATAAGATTGTCTCAGAAATAAGCTTTTTGTTGACTTGATCATCTATT CATTTTCTACTTCCAGGGCTAACAATTCCATTTGAGTAAATTCTACATCA TTTTATGGATGAAAGAAAGAAGTGATGTTAACATATGTATTTGTGTGTGT GCGTGTGTATGTATACATTATATCTTTTCTAAATTTATATTGAAATTACT TTATTCTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33681126	A A	AAAAAAAA others(292): Show AAAAAAAAAAAAAAAAGAATAAAGTAATTTCAATATAAATTTAGAAAAGA TATAATGTATACATACACACGCACACACACAAATACATATGTTAACATCA CTTCTTTCTTTCATCCATAAAATGATGTAGAATTTACTCAAATGGAATTG TTAGCCCTGGAAGTAGAAAATGAATAGATGATCAAGTCAACAAAAAGCTT ATTTCTGAGACAATCTTATTACCAGCAAATAATTGGTATTGGCAAACAAC TGCTGCTAAGAGAGACAATCAGCCTGGGTGACAGAGCGAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02080.hp2 NA18946.hp2 HG01993.hp1 HG02080.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0012t0003g0006 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0012t0003g0006	3	276	0.0109	299	c.644 others(316): Show c.644+3232_644+3233insGAGATGGAGTCTCGCTCTGTCACCCAGG CTGATTGTCTCTCTTAGCAGCAGTTGTTTGCCAATACCAATTATTTGCTG GTAATAAGATTGTCTCAGAAATAAGCTTTTTGTTGACTTGATCATCTATT CATTTTCTACTTCCAGGGCTAACAATTCCATTTGAGTAAATTCTACATCA TTTTATGGATGAAAGAAAGAAGTGATGTTAACATATGTATTTGTGTGTGT GCGTGTGTATGTATACATTATATCTTTTCTAAATTTATATTGAAATTACT TTATTCTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38			chr3	TogoVar
CNBD2_chr20_35963590_36035700	35975040	C C	CGCCCAGG others(292): Show CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTCTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03654.hp1 HG03017.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	246	0.0081	299	c.190 others(314): Show c.190-701_190-403dupGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTATTTTTTGAGATGGAG TCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCC	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GTGTGGGG others(292): Show GTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGC AGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTG AGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	238	0.0042	299	c.100 others(316): Show c.100-1892_100-1891insTGTGGGGGAGGGCTGCACTAGCTCACTT GTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGG GCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970459	G G	GGGGTAAG others(292): Show GGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGG CTGTAAGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGTTGACTGGG TGCTGTGGGGTGAGTGGGGTCTGTAGGTGAGTGGGGTCTGTGGGTGAGTG TGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGGGGTGA GTGGGGTCTGTGGGTGAGTGGGGTCTGTGGTTGACTGGGGTCTGTGGGGT GAGTGGAATCTGTGGGTGAGTGGGGTCTGTGGGGTAAGCGGGGACTGTAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0009 a0011c0006t0009	a0011c0006t0009g0207 a0011c0006t0009g0207	1	410	0.0024	299	c.393 others(316): Show c.3936+162_3936+163insTTACAGTCCCCGCTTACCCCACAGACCC CACTCACCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCACAGAC CCCACTCACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACA GACCCCACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCTAC AGACCCCACTCACCCCACAGCACCCAGTCAACCACAGACCCCACTCACCC ACAGACCCCACTCACCTTACAGCCCCCACTCACCCCACAGACCCCACTCA CCCCACAGCCCCCGCTTACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(292): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC AACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0202 a0023c0031t0001g0202	1	259	0.0039	299	c.128 others(314): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(292): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCCACCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC AACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	259	0.0039	299	c.128 others(314): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(292): Show CACCCCCCACCACAGTCCCCCACCCCCCCACCCCAGTCCCCAAACCCCTA CCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCC CAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC AACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02074.hp1 HG02074.hp2 others(5): Show HG02055.hp2 HG02074.hp1 HG02074.hp2 NA18940.hp1 NA18961.hp1 NA18961.hp2 NA18977.hp1 NA18985.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0022c0039	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0010t0002 a0022c0039t0001	a0001c0001t0001g0117 a0001c0001t0006g0246 a0001c0002t0001g0201 others(5): Show a0001c0001t0001g0117 a0001c0001t0006g0246 a0001c0002t0001g0201 a0001c0003t0001g0277 a0001c0004t0002g0118 a0001c0010t0002g0296 a0001c0010t0002g0324 a0022c0039t0001g0114	8	266	0.0301	299	c.128 others(314): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCCACCCCAGT CCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCC TACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTC CCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(292): Show CACCCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTA CCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCC CAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC AACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	259	0.0039	299	c.128 others(314): Show c.1287+69_1287+70insCCACCACAGTCCCCCACCCCCCACCCCAGT CCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCC TACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTC CCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(292): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0136 a0001c0003t0002g0136	1	20	0.0500	299	c.540 others(314): Show c.540+724_540+725insCTTCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(292): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0079 a0002c0054t0079	a0002c0054t0079g0096 a0002c0054t0079g0096	1	16	0.0625	299	c.416 others(320): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCA CATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(292): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0310 a0003c0003t0002g0310	1	273	0.0037	299	c.-27 others(320): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(292): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00642.hp1 others(6): Show HG00438.hp2 HG00639.hp2 HG00642.hp1 HG02132.hp2 HG02818.hp1 NA18906.hp1 NA18962.hp1 NA18988.hp2 NA19009.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0201 a0001c0001t0002g0255 a0001c0001t0002g0256 others(6): Show a0001c0001t0001g0201 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0273 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0004c0005t0001g0039	9	281	0.0320	299	c.-27 others(320): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428997	T T	TTTTAGCA others(292): Show TTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0117 a0004c0005t0001g0117	1	384	0.0026	299	c.-27 others(320): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNAL1_chr9_108937577_109018499	109005411	T T	TAAAATCC others(292): Show TAAAATCCTAATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCCTCCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0183 a0004c0004t0001g0183	1	417	0.0024	299	c.142 others(316): Show c.142-6156_142-6155insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGGAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAGTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGATTAGGATTTT	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	1/18			chr9	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(292): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATATTATATATTATATATATTATATAATATATATAATATATATAT AATATATAATATATAATATATTATTATATATATTATAAATTATATAATAT ATATAATATATATATTATATATAATATATTATATATTATATTATATATAA TATATATAATATATAATATATTATATATAATATATTATATATTATATAAT ATATATATAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02074.hp1 NA18975.hp1 HG01261.hp1 HG02074.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143	3	166	0.0181	299	c.36 others(310): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATAATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATTATATAATATATATA ATATATAATATATATTATATATTATATATATATTATATATATTATATAAT ATATATAATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
DCLK2_chr4_150073445_150262438	150251168	C C	CCACATCC others(292): Show CCACATCCCCCACACCCCCACACATCCCCCACACCCCCATCCCCCACACC CCCACACATCCCCCACACCCCCCACACATCCCCCACACCCCCCAAATCCC CCACACCCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCAC ACATCCCCCACACCCCCCAAATCCCCCACACCCCCCACACATCCCCCACA CCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCC CCCACACCCCCACACATCCCCCACACCCCCCAAATCCCCCACACCCCCCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0053 a0002c0002t0004g0053	1	94	0.0106	299	c.207 others(318): Show c.2073+1502_2073+1503insACACATCCCCCACACCCCCATCCCCC ACACCCCCACACATCCCCCACACCCCCCACACATCCCCCACACCCCCCAA ATCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCCCCCACACC CCCACACATCCCCCACACCCCCCAAATCCCCCACACCCCCCACACATCCC CCACACCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCCCCCA CATCCCCCACACCCCCACACATCCCCCACACCCCCCAAATCCCCCACACC CCCCACACATCCCCCACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397738	G G	GGTGGGGG others(292): Show GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGGGTGGGGGGGGTGAGGGGAGTCGGGTGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	364	0.0027	299	c.-42 others(310): Show c.-4226_-4225insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGGGGGGGGTGAGGGGAGTC GGGTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4146		chr16	TogoVar
DNAH12_chr3_57288700_57549344	57390422	A A	ATATATAT others(292): Show ATATATATATATATATATATATATATATACACATACATATACATATATAC ACATACATATACATATATACACATACATATACATATATACACATACATAT ATATATACATATATATACATATATATATACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTGTGTATATATACACATATATATAT ACACATATATATATATACACATATATATATACACATATATATATACACAC ATATATATATATACACATATATATATACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0068 a0068	a0068c0065 a0068c0065	a0068c0065t0001 a0068c0065t0001	a0068c0065t0001g0097 a0068c0065t0001g0097	1	258	0.0039	299	c.730 others(318): Show c.7305+1449_7305+1450insATATATATATATATATATGTGTGTAT ATATATATGTGTATATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATATGTGTATATATATATGTGTATATATACACAC GTATATATATATACGTGTATATATATACACGTATATATATATACGTATAT ATATATGTATATATATGTATATATATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATAT ATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAATATAT others(292): Show AAATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0067 a0004c0004t0001g0067	1	82	0.0122	299	c.730 others(318): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATACAC ACGTATATATATATACGTGTATATATATACACGTATATATATATACGTAT ATATATATGTATATATATGTATATATATATGTATGTGTATATATGTATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATATATATATATATATATATT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(292): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATACACACATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0061 a0061	a0061c0071 a0061c0071	a0061c0071t0001 a0061c0071t0001	a0061c0071t0001g0070 a0061c0071t0001g0070	1	82	0.0122	299	c.730 others(318): Show c.7305+1447_7305+1448insATATATGTATATATATATATGTGTGT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATACAC ACGTATATATATATACGTGTATATATATACACGTATATATATATACGTAT ATATATATGTATATATATGTATATATATATGTATGTGTATATATGTATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(292): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 NA18947.hp1 HG01358.hp2 HG01361.hp1 NA18947.hp1	a0004 a0027 a0004 a0027	a0004c0004 a0027c0021 a0004c0004 a0027c0021	a0004c0004t0001 a0027c0021t0001 a0004c0004t0001 a0027c0021t0001	a0004c0004t0001g0069 a0004c0004t0001g0072 a0027c0021t0001g0098 a0004c0004t0001g0069 a0004c0004t0001g0072 a0027c0021t0001g0098	3	84	0.0357	299	c.730 others(318): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATACAC ACGTATATATATATACGTGTATATATATACACGTATATATATATACGTAT ATATATATGTATATATATGTATATATATATGTATGTGTATATATGTATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(292): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0001 a0070c0074t0001	a0070c0074t0001g0089 a0070c0074t0001g0089	1	2	0.5000	299	c.124 others(320): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(292): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCACCAC CTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCAC CACCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19005.hp1 NA18994.hp1 NA19005.hp1	a0025 a0025	a0025c0022 a0025c0022	a0025c0022t0005 a0025c0022t0005	a0025c0022t0005g0207 a0025c0022t0005g0208 a0025c0022t0005g0207 a0025c0022t0005g0208	2	69	0.0290	299	c.323 others(318): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATC ACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCACCA CCACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCTCCACC ACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(292): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	161	0.0062	299	c.-10 others(318): Show c.-107+5245_-107+5246insTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(292): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01256.hp1 HG02258.hp2 others(3): Show HG01069.hp2 HG01256.hp1 HG02258.hp2 HG02922.hp2 HG03540.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0226	6	148	0.0405	299	c.105 others(316): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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