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
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(486): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGG GGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGG AGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0014 a0014	a0014c0098 a0014c0098	a0014c0098t0027 a0014c0098t0027	a0014c0098t0027g0019 a0014c0098t0027g0019	1	16	0.0625	493	c.416 others(514): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCC CCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DPH1_chr17_2025153_2048898	2035415	G G	GCGGGGGT others(486): Show GCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGG CCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCC TGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGGCCCTGCCTGTGGT GGGGAGGTAGTGGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAG GTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGG GGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCG GGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGGTCCGGGTGAG GGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCC TGCCTGCGGTGGGGAGGTAGCGGGGGGTCCAGGCGAGGGGGCCCTGCCTG TGGTGGGGAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0132 a0003c0004t0001g0132	1	387	0.0026	493	c.279 others(508): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGGTCCGGGTGAGGGGG CCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCC TGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTG GGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGT AGTGGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGG GGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGGTCCA GGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTATG GTGGGGAGGTAGT	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12			chr17	TogoVar
GALNT9_chr12_132191372_132334589	132241522	G G	GCCACACA others(486): Show GCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCAC ACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC TGGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTC CCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCA TTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	137	0.0073	493	c.107 others(512): Show c.1077+6387_1077+6388insTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGG GGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGT GTTGTGTGTTTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGT GTGTGTAATGGGGATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCC AAGGGAAGGGTGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(486): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGG GCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00609.hp1 others(44): Show HG00140.hp1 HG00423.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp2 HG02698.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18950.hp2 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA18999.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0012 a0001c0027 a0001c0028 a0001c0035 a0001c0036 a0002c0032	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0007t0010 a0001c0010t0001 a0001c0012t0002 a0001c0027t0001 a0001c0028t0001 a0001c0035t0009 a0001c0036t0003 a0002c0032t0002	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0029 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0003t0001g0091 a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0005t0001g0031 a0001c0005t0001g0088 a0001c0005t0001g0113 a0001c0007t0001g0061 a0001c0007t0001g0103 a0001c0007t0010g0108 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0089 a0001c0012t0002g0183 a0001c0027t0001g0082 a0001c0028t0001g0144 a0001c0035t0009g0140 a0001c0036t0003g0055 a0002c0032t0002g0167	47	110	0.4273	493	c.107 others(512): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGC CCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(486): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGT GCGTGATGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	64	0.0156	493	c.107 others(512): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCATCACGCACCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGC CCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(486): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGT GCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(38): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03688.hp2 NA18945.hp2 NA18950.hp1 NA18962.hp1 NA18962.hp2 NA18980.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19063.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0001c0022 a0001c0030 a0001c0038	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0002 a0001c0012t0002 a0001c0015t0001 a0001c0018t0001 a0001c0022t0001 a0001c0030t0001 a0001c0038t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0032 others(38): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0002t0001g0034 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0003t0001g0093 a0001c0004t0001g0112 a0001c0006t0001g0013 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0015t0001g0024 a0001c0018t0001g0039 a0001c0022t0001g0120 a0001c0030t0001g0110 a0001c0038t0001g0046	41	104	0.3942	493	c.107 others(512): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCACCACGCACCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGC CCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLOD4_chr17_754330_787280	768701	G G	GGAAGAAA others(486): Show GGAAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTT TTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAG ATTTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCAC TCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAG TGCGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGA GAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGA GAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGA CGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAG AGGATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCT GGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	169	0.0059	493	c.831 others(510): Show c.831+1167_831+1168insTAAAAATCTGAGTGCGCGCTGTTTCTCT CTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTT CTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGCGCT GTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGT GCGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCT GAGTGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTCCTTCTA AAAATCTGAGTGCGCACTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCT CCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCA GATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCCTC TCCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCACGTCC TCTCCAGATTTCTTC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATACAT others(486): Show ATATACATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATTTATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATTTATTTATATATATATAAATATATATTTATATATA AATATATATATTTATATTTATTTCTATATATAAATATATATATTTATATA TATAAATATATATTTATATATATAAATATATATATTTATATTTATAAATA TATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	133	0.0075	493	c.-97 others(510): Show c.-97-2618_-97-2617insCATAAATATATATATTTATATTTATTTT TATATATATAAATATATATATTTATATATATATAAATAAATATAAATATA TATATTTATATGTATATATATAAATATATATATTTGTATATATATAAATA TATATATTTATATATATATATTTTATACATATAAATATATATTATAAATA TATATTTATACATATAAATATATATTATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATTTATTTATATATATAAATATAT ATATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATTTATATATAAATATATATATTTATATTTATTTCTATATATAA ATATATATATTTATATATATAAATATATATTTATATATATAAATATATAT ATTTATATTTATAAATATATATATTTATATATATTTATATTTATATATAT TTATATATATTTATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(486): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTATATATATATATTTTATACATATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATTTATTTATATATATATAAA TATATATATTTATATATAAATATATATATAAATATATATATTTATATATA AATATATATATTTATATTTATTTCTATATATAAATATATATATTTATATA TATAAATATATATTTATATATATAAATATATATATTTATATTTATAAATA TATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0175 a0001c0002t0019g0175	1	133	0.0075	493	c.-97 others(510): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTATATATATATATTTTATACATATAAATA TATATTATAAATATATATTTATACATATAAATATATATTATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATTTATTTATATATATA TAAATATATATATTTATATATAAATATATATATAAATATATATATTTATA TATAAATATATATATTTATATTTATTTCTATATATAAATATATATATTTA TATATATAAATATATATTTATATATATAAATATATATATTTATATTTATA AATATATATATTTATATATATTTATATTTATATATATTTATATATATTTA TATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(486): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATTTATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATTTATTTATATATATATAAATATATATTTATATATA AATATATATATTTATATTTATTTCTATATATAAATATATATATTTATATA TATAAATATATATTTATATATATAAATATATATATTTATATTTATAAATA TATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18612.hp1 NA19005.hp1 HG00597.hp2 NA18612.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0032 a0001c0003t0002g0041 a0001c0003t0005g0040 a0001c0003t0002g0032 a0001c0003t0002g0041 a0001c0003t0005g0040	3	135	0.0222	493	c.-97 others(510): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATTTATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATTTATTTATATATATATAAATATATATTTATA TATAAATATATATATTTATATTTATTTCTATATATAAATATATATATTTA TATATATAAATATATATTTATATATATAAATATATATATTTATATTTATA AATATATATATTTATATATATTTATATTTATATATATTTATATATATTTA TATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(486): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATACATATGGAACATATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0122 a0003c0003t0004g0122	1	317	0.0032	493	c.-21 others(504): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATACATATGGAACATATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(486): Show GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0112 a0004c0004t0003g0112	1	242	0.0041	493	c.178 others(510): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGC AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(486): Show TACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGA TCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACC CCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAC TCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGAT CCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCA CCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAA AGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0360 a0001c0001t0184g0360	1	288	0.0035	493	c.64+ others(510): Show c.64+11896_64+11897insTGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGA GGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGG CGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGG TGAGTGTTTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(486): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01517.hp1 HG02273.hp1 others(6): Show HG00733.hp2 HG01517.hp1 HG02273.hp1 NA18962.hp1 NA18968.hp1 NA19074.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 others(2): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027	a0001c0001t0007g0110 a0001c0001t0007g0116 a0001c0001t0007g0118 others(6): Show a0001c0001t0007g0110 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0014g0038 a0001c0001t0014g0077 a0001c0001t0017g0015 a0001c0001t0025g0153 a0001c0001t0027g0225	9	68	0.1324	493	c.317 others(510): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149451	C C	CCTCCTCA others(486): Show CCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCT CACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCAC ACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAG CCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTC CTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTC ACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0029 a0002c0027t0029	a0002c0027t0029g0115 a0002c0027t0029g0115	1	305	0.0033	493	c.66 others(504): Show c.6661_*6662insCTCCTCACACCACAGAGCCCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACAC CCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCT CCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCC CACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACC CCTCTCCTG	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3860		chr1	TogoVar
LMF1_chr16_848634_975984	857623	A A	ACGGGACG others(486): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0127 a0004c0027t0001g0127	1	266	0.0038	493	c.153 others(512): Show c.1530-2918_1530-2917insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857682	G G	GCAGTGGT others(486): Show GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	238	0.0042	493	c.153 others(512): Show c.1530-2977_1530-2976insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(486): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00673.hp2 others(14): Show HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp1 HG01952.hp2 HG01975.hp1 HG02074.hp1 HG02273.hp1 HG02300.hp1 HG02602.hp1 HG03669.hp1 HG04228.hp1 NA19004.hp1 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA20905.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0041 a0016c0066	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0011t0001 a0001c0041t0001 a0016c0066t0001	a0001c0001t0001g0169 a0001c0001t0001g0222 a0001c0001t0001g0238 others(14): Show a0001c0001t0001g0169 a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0002t0001g0093 a0001c0003t0001g0237 a0001c0004t0001g0054 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0087 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0006t0001g0073 a0001c0010t0001g0112 a0001c0011t0001g0149 a0001c0011t0001g0150 a0001c0041t0001g0088 a0016c0066t0001g0146	17	258	0.0659	493	c.153 others(512): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(486): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0065 a0001c0008t0001g0065	1	82	0.0122	493	c.153 others(512): Show c.1530-3001_1530-3000insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(486): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0241 a0001c0022t0001g0241	1	82	0.0122	493	c.153 others(512): Show c.1530-3001_1530-3000insTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909267	A A	AATATATA others(486): Show AATATATATATTATTATATATATAATAATATATATACAATATATAATTAT ATATAATATATAATTATATATAATATATAATTATATATTATTATATAATA TATAATTATATATTATATAATTATATATTATATAATAATATATAATTATA TAATATATAATTATATATTATATAATAATATATAATTATTAATAATATAT AATAATATATAATATATAATTATATATTATATAATAATATATAATTATAT ATTATATATAATTATATATTATATAATATATAATTATATATAATATATAA ATATATAATATATAAATATATATAATATATAAATATATAATATATAAATA TATATAATATATAAATATATATAATATATAAATATATAATATATAAATAT ATATAATATATAAATATATAATATATAAATATATATAATATATAAATATA TAATATATAAATATATATAATATATAAATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 NA18906.hp1 HG02486.hp2 HG03225.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0033 a0005c0005t0003g0103 a0005c0005t0003g0033 a0005c0005t0003g0103	3	206	0.0146	493	c.622 others(508): Show c.622-617_622-616insATATTATTATATATATAATAATATATATAC AATATATAATTATATATAATATATAATTATATATAATATATAATTATATA TTATTATATAATATATAATTATATATTATATAATTATATATTATATAATA ATATATAATTATATAATATATAATTATATATTATATAATAATATATAATT ATTAATAATATATAATAATATATAATATATAATTATATATTATATAATAA TATATAATTATATATTATATATAATTATATATTATATAATATATAATTAT ATATAATATATAAATATATAATATATAAATATATATAATATATAAATATA TAATATATAAATATATATAATATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LYPD8_chr1_248734415_248760759	248742472	T T	TGCTCTGG others(486): Show TGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGAT GTTGGCAGCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGA GGTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTTACGCTCTGGTG GGGATGTTGGCAGCCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGC CGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTC TGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGG CAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATT ATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGA TGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGG GAGATTACGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGTTAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	368	0.0027	493	c.476 others(510): Show c.476-2624_476-2623insGTAACCTCCCCCGGCTGCCAACATCCCC ACCAGAGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCT CCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAAC ATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCA TAATCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCT GCCAACATCCCCACCAGAGCATAATCTCCCCGCTGCCAACATCCCCACCA GAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCGTAACCTCCCC CGGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGCTGCCAACATCC CCACCAGAGCGTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAAC CTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAA CATCCCCACCAGAGC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550131	C C	CCCACCCA others(486): Show CCCACCCATCCATCCATCCATCCACCCATCCATTCACTCACCTGCCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATGCACTCACCTG CCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCA TCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATC CATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCACCCCATCC ACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATCCATCCAT CCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTC TCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCAT CCACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	245	0.0041	493	c.54 others(504): Show c.5431_*5432insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGG TGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATG GATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGG TGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAA TGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATG GATGGGTGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4540		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(486): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAG AGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	62	0.0161	493	c.225 others(510): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAG AAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGA GAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGGG others(486): Show TGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGG CGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGCACGTGGAGGGGG GAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAG GGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGA GGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGCGTGGA GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGGGGGCACGTGGAGGGGGGAGCGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	285	0.0035	493	c.159 others(510): Show c.1596+146_1596+147insAGGGGGGGCGAGTGGAGGGGGGCGCGTG GGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAG GGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGGGGGCACGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGT GGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGC GTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGCACGTGG AGGGGGGAGCGTGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1G_chr7_44957662_44984015	44961450	C C	CTGAGGGG others(486): Show CTGAGGGGCTGAGGGATTGAGGAGGCTGAGGGCTGAGGGGCTGAGGGAGT TGAGGGGTTGAGGGGGCTGACGGCTGAGGGCTGAGGGGCTAAGGAGGCTG AGGGGCTGAGGGGCTGGGGGGCTGGGGGGCTGAGGGGGCTGAGGGGCTGA GTGGTTGAGGGGGTTGAGGGGGCTGGGGGCTGGGGGGCTGAGGGCTGAGG GGGCTGAGGGCTGAGGGAGCTGAGGGCTGAGGGGGGTAAGGGCTGAGGGC TGAGGGAGCTGAGGGGGCTGAGGGGATGAGGGGTTGAGGGGACTGAGGAC TGAGGGGCTGAGGGTTTGAGGGGGCTGAGCACTGAGGGGCTGAGGGATTA AGGAGGCTGAGGGCTGAGGGGCTGAGGGAGTTGAGGGGTTGAGGGGGCTG ACGGCTGAGGGCTGAGGGGCTGAGGGGCTAAGGAGGCTGAGGGGCTGAGG GGCTGGGGGGCTGGGGGGCTGAGGGGGCTGAGGGGCTGAGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	76	0.0132	493	c.12 others(504): Show c.1288_*1289insACAACTCAGCCCCTCAGCCCCCTCAGCCCCCCAG CCCCCCAGCCCCTCAGCCCCTCAGCCTCCTTAGCCCCTCAGCCCCTCAGC CCTCAGCCGTCAGCCCCCTCAACCCCTCAACTCCCTCAGCCCCTCAGCCC TCAGCCTCCTTAATCCCTCAGCCCCTCAGTGCTCAGCCCCCTCAAACCCT CAGCCCCTCAGTCCTCAGTCCCCTCAACCCCTCATCCCCTCAGCCCCCTC AGCTCCCTCAGCCCTCAGCCCTTACCCCCCTCAGCCCTCAGCTCCCTCAG CCCTCAGCCCCCTCAGCCCTCAGCCCCCCAGCCCCCAGCCCCCTCAACCC CCTCAACCACTCAGCCCCTCAGCCCCCTCAGCCCCCCAGCCCCCCAGCCC CTCAGCCCCTCAGCCTCCTTAGCCCCTCAGCCCTCAGCCGTCAGCCCCCT CAACCCCTCAACTCCCTCAGCCCCTCAGCCCTCAGCCTCCTCAATCCCTC AGCCCCTCA	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1211		chr7	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(486): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTT CCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTT CCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	18	0.0556	493	c.153 others(510): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAG GGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGA GGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(486): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAACCACTA CTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACT GGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	167	0.0060	493	c.147 others(512): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGG TAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAG GAGGGCAGAGGGACCCAGTAGTGGTTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGG ACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(486): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATATTATATATAAATATATAATA TATAATATAATATATAATATATTATATATAATATATTATATATTATATAT ATTATATTATATATATTATATTATATATAATATATTATATATTATATATT TATATATAATATATATATAATATATATTATATATTATATAATATATAATA TATTATATATTATATAATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA18973.hp1 others(1): Show NA18954.hp2 NA18971.hp1 NA18973.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0011 a0002c0002t0007g0064 a0002c0002t0007g0065 a0002c0002t0007g0011 a0002c0002t0007g0064 a0002c0002t0007g0065	4	205	0.0195	493	c.48+ others(508): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATTATATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAT TATATATAAATATATAATATATAATATAATATATAATATATTATATATAA TATATTATATATTATATATATTATATTATATATATTATATTATATATAAT ATATTATATATTATATATTTATATATAATATATATATAATATATATTATA TATTATATAATATATAATATATTATATATTATATAATATATATAATATAT TATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
OSGIN1_chr16_83948240_83971332	83951904	C C	CTCCATCC others(486): Show CTCCATCCTCCCTCCTTCCCTTCCTGCTTCCTCCCTCCTTCCATCCCTCC TTCCCTCCCTCCTGCGCTTCTCCCTCTTTCCCTCCCTCTTCCCTTCCTCC TTCCCTCCCTCCCTCCTTCCCTCCCGCCCTGCCTCCCTCCCCCTCCCTCC TTCCCTCCCTGCCTTCCTCCCCTCTTCCCCCTCCCTCCTTCCCTCCTTCC TCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCT TCCTCCTTCCCTCCCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTC CCTCCCTCCCTCCTTCCCTCCCGGCCTTCCACCCTCCTTCCCCTCCCTCC TCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTAC TTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCTCCCTCCTTT CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTTGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	493	c.-14 others(504): Show c.-1499_-1498insTCCATCCTCCCTCCTTCCCTTCCTGCTTCCTCCC TCCTTCCATCCCTCCTTCCCTCCCTCCTGCGCTTCTCCCTCTTTCCCTCC CTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCGCCCTGCCTC CCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCTCTTCCCCCTCCC TCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCT TCCCTCCCTCCTCCTTCCTCCTTCCCTCCCCTCCTTTCCTCCTCCCCTCC ATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCGGCCTTCCACCCT CCTTCCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCC TCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTC CCTGCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTTGC CTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1335		chr16	TogoVar
PAK2_chr3_196734857_196837647	196811326	C C	CCTTCCCT others(486): Show CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTACCCTCCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCT TCCCTCCCTCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTC CCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCCTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	143	0.0070	493	c.773 others(508): Show c.773+674_773+675insTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTCCCTCCTTCCTTCCCTTCCTTCCCTTC CCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCC CCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCC TCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTC CCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCC CTTCCCTCCCTTC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCA_chr13_100084093_100535435	100451989	T T	TCCTCTTC others(486): Show TCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCT CTCTCTCCTCTTCCTCTCTCTCCTCTTCCTCTCTCTCTCTCCCCTTCCTC TCTTTCTCTCCCCTTCCTCTCTCTCTCCTCTTCCTCCCTGTCTCCTCTTC CTCCCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTT CCTCTCTCTCTCCTCTTCCTCTCTGTCTCCTCCTTTTCCTCTCTGTCTCT TCCTCTCTCTGTCTCCTCTTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCT CTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCT CTGTCTCCTCTTCCTCTCTGTCTTCTTCCTCTCTCTCTCTTCTTCCACTC TCTCTTCTTCCTCTCTCTCTCCTTTCTCTCTTTCCTCTTCCTCTCTCCTC TCCCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	172	0.0058	493	c.189 others(512): Show c.1899+2684_1899+2685insCCTCTTCCTCTCTCTCTCTCCTCTTC CTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCTCTT CCTCTCTCTCTCTCCCCTTCCTCTCTTTCTCTCCCCTTCCTCTCTCTCTC CTCTTCCTCCCTGTCTCCTCTTCCTCCCTCTCTCCTCTTCCTCTCTCTCT CCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTGTC TCCTCCTTTTCCTCTCTGTCTCTTCCTCTCTCTGTCTCCTCTTCTGTCTC CTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCT CCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCTTCCTCTCTGTCTTCTT CCTCTCTCTCTCTTCTTCCACTCTCTCTTCTTCCTCTCTCTCTCCTTTCT CTCTTTCCTCTTCCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCCC TCTCTCTCTCCTCTCCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23			chr13	TogoVar
PERM1_chr1_970198_987093	977626	G G	GCTCCCCC others(486): Show GCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0006 a0015c0037t0006	a0015c0037t0006g0058 a0015c0037t0006g0058	1	114	0.0088	493	c.215 others(512): Show c.2150-1003_2150-1002insTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGT CGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCC CGGGGTTGCGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(486): Show TGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCG TGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCT GGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0222 a0002c0001t0001g0222	1	320	0.0031	493	c.-10 others(510): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGG CTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGT GTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGT GTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PKP3_chr11_389209_409908	398671	C C	CTACCCCC others(486): Show CTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT GCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCATC ACCTCCGTACCCCCGCACACACCTGCATCACCTCCCTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	50	0.0200	493	c.106 others(510): Show c.1069-293_1069-292insCTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGC ATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCG TACCCCCGCACACACCTGCATCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398689	G G	GCGTCACC others(486): Show GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCC CGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	202	0.0050	493	c.106 others(510): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTCCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(486): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	157	0.0064	493	c.106 others(510): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(486): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp2 HG01261.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	158	0.0127	493	c.106 others(510): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398729	C C	CTACCCCC others(486): Show CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT CCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0106 a0010c0017t0001g0106	1	173	0.0058	493	c.106 others(510): Show c.1069-217_1069-216insGCGTCACCTCCCTACCCCCGCACACACC TGCATCACCTCCATACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977626	G G	GCTCCCCC others(486): Show GCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0035 a0001c0011t0005g0035	1	113	0.0088	493	c.30 others(504): Show c.3051_*3052insCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1762		chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(486): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCT TCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTT CCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTC CCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	82	0.0122	493	c.845 others(510): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC CCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTT CCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTC CCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCT TCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTT CCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151855141	A A	ATGCTCCA others(486): Show ATGCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACA CCACCATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACC ATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACACCGC CCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCC TCCACACACACCACCCTCCACACACACCACCCTCCACACACACCATCCTC CACACACCACCCTCCACACACACCACCCTCCACACACACCATGCTCCACA CACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCCT CCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTCC ACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCACC CTCCACACACCACCATCCACACACACCACGCTCCACACACACCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02300.hp1 HG00741.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0168 a0001c0001t0001g0071 a0001c0001t0002g0168	2	174	0.0115	493	c.114 others(512): Show c.114+21365_114+21366insCGGTGTGTGTGGAGCGTGGTGTGTGT GGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGT GTGGAGCATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGT GGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGA GGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGT GGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGA GGGTGGTGTGTGGAGCA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122363	G G	GTCACGGT others(486): Show GTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGT CATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGT GGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA CGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACAGCGATAGT TAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp1 HG00140.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0264 a0001c0003t0001g0262 a0001c0003t0001g0264	2	199	0.0101	493	c.335 others(512): Show c.335-12898_335-12897insCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGG TGGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACG GCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123535	G G	GATCATGG others(486): Show GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	262	0.0038	493	c.335 others(512): Show c.335-11727_335-11726insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTA GGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(486): Show AGTCAGGGAGGAGGTGCAGGGGTGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0035 a0001c0001t0013g0035	1	41	0.0244	493	c.809 others(510): Show c.809-3005_809-3004insTGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492357	G G	GGCCCCTC others(486): Show GGCCCCTCCCGGGGGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0282 a0001c0001t0012g0282	1	292	0.0034	493	c.126 others(512): Show c.1265+3358_1265+3359insCCCCTCCCGGGGGACCCGAGGCCGTC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGG CCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGA CCCGAGGCCGCCCAGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCGGGAG others(486): Show CCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGT CCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCC AGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0109 a0001c0001t0025g0109	1	240	0.0042	493	c.126 others(512): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGTCCAGGGCCC TCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGTCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGT CCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGAGC others(486): Show CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG CCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCG AGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCC CCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCCGGG AGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0053 a0001c0013t0053	a0001c0013t0053g0069 a0001c0013t0053g0069	1	126	0.0079	493	c.126 others(512): Show c.1265+3511_1265+3512insAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGA GCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCG AGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCC CGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTC CAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGC CGTCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGA GACCCGAGGCCGTCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(486): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCT ACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCT ACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCT CCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCCACCCTCCCTTCCC CTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	10	0.1000	493	c.80+ others(510): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCCTCCCCTTTTCTCCCTT CCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGT CCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCT CCTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCC CCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCT CCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(486): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTT TTCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCC CTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCC TACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCC TACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCC TCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCC CTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0184 a0002c0003t0004g0184	1	10	0.1000	493	c.80+ others(510): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTTCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTTCC CTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCT TCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCG TCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCC TCCTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCC CCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCT CCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar

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