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
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(796): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGC TGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01978.hp2 others(17): Show HG00280.hp1 HG00597.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp1 NA18951.hp1 NA18953.hp2 NA18967.hp1 NA18973.hp2 NA18980.hp2 NA18985.hp1 NA18990.hp1 NA18998.hp2 NA19030.hp2 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0041 a0001c0001t0045 a0001c0001t0049 a0001c0002t0001 a0001c0002t0005 a0005c0005t0005	a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0060 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0142 a0001c0001t0005g0054 a0001c0001t0005g0094 a0001c0001t0041g0095 a0001c0001t0045g0005 a0001c0001t0049g0096 a0001c0002t0001g0007 a0001c0002t0001g0250 a0001c0002t0001g0269 a0001c0002t0005g0007 a0001c0002t0005g0288 a0001c0002t0005g0295 a0005c0005t0005g0322 a0005c0005t0005g0323	20	57	0.3509	803	c.248 others(820): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(796): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGC TGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0079 a0005c0005t0001g0079	1	38	0.0263	803	c.248 others(820): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(796): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCTGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGC TGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0140 a0001c0001t0001g0091 a0001c0001t0001g0140	2	39	0.0513	803	c.248 others(820): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCTGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(796): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCT TTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0082	a0001c0003t0082g0154 a0001c0003t0082g0154	1	2	0.5000	803	c.162 others(824): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(796): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCT TTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	2	0.5000	803	c.162 others(824): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(796): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCT TTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19086.hp1 NA18747.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0128 a0001c0003t0007g0139 a0001c0003t0007g0128 a0001c0003t0007g0139	2	3	0.6667	803	c.162 others(824): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(796): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCT TTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0130 a0001c0003t0007g0130	1	2	0.5000	803	c.162 others(824): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(796): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGAT GGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGG TGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATA AGGATGATGATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGAT GATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGA TGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTG ATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGA TGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp1 HG02886.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0170 a0001c0001t0004g0172 a0001c0001t0002g0170 a0001c0001t0004g0172	2	75	0.0267	803	c.937 others(818): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATG ATGGTGATGGTGATGATAAGGATGATGATGATGAGGATGATGGTGGTGAT GATGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGG TGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATG ATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGAT GGTGATGATGATGGTGATTATGATGATGGTGATGATGGTGATGATGATGG TGATGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(796): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGGT GATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGGTGA TGGTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGG ATGATGATGATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGAT GATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGA TGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTG ATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGA TGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	74	0.0135	803	c.937 others(818): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGATGG TGATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATG GTGATGGTGATGATAAGGATGATGATGATGATGAGGATGATGGTGGTGAT GATGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGG TGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATG ATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGAT GGTGATGATGATGGTGATTATGATGATGGTGATGATGGTGATGATGATGG TGATGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924061	G G	GCCCCCCA others(796): Show GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACC CAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAACCC AGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTGA CCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACT GACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGC CCCCACACTGACCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCGG CCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACC CAGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0146 a0012c0013t0001g0146	1	282	0.0035	803	c.488 others(820): Show c.488+1421_488+1422insCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACGCAG TCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTGACC CGGCCCCCAACACTGACCCAGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCAGTC CCCACACTAACCCGGCCCCCACACTGACCCGGTCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCC GGCCCCCACACTAACCCAGTCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(796): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAA ACATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGT ATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTA TACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAAC AGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATA ATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGG TTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCA TGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTC AGAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATAT ATATATATATATATATATATATATATATATATATATATGTCTATTTCCTG AGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTT TCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01361.hp1 others(1): Show HG00733.hp1 HG01081.hp1 HG01361.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0009g0167	4	273	0.0147	803	c.-51 others(814): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AGAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAAT AAGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCT TGCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCT TTTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAG AACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTG TCAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTA ATGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAA GTGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTA TATATATATATATATATATATATATATATATATATATATATATATATATA TATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAA TGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGG ATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(796): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAAC ATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTAT TCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTATA CCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACAG AAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAAT GTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGTT TCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCATG AATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCAG AACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATGTCTATTTCCTG AGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTT TCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0139 a0001c0002t0003g0139	1	270	0.0037	803	c.-51 others(814): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAG AAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATAA GGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTG CTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTTT TTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAA CAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTC AGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAAT GTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGT GGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAA TGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGG ATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(796): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATATAAGTACATAT AAATATATATACATAAATATATAAATATATAAATATATAAATACATAATA TATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAA AATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATA CACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAA TATATATTATATATAAATATATAATATATAAATATATATAAATATATAAA TATATATAAATATATACAATATATAAATATATATAAATATATACAATATA TAAATATATATATACAATATATAAATATATATAAATATATACAATATATA AATATATATAAATATATACAATATATAAATATATATAAATATATACAATA TATAAATATATATAAATATATATAATATATAAATATATATAAATATATAA ATATATATAAATATATATAATATATAAATATATAAAAATATATAAATATA TATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	12	0.0833	803	c.617 others(820): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATGTATTTATATATTTTTATATATTTATAT ATTTATATATTTATATATATTTATATATTTATATATTTATATATATTTAT ATATATTTATATATTTATATATTTTTATATATTTATATATTTTTATATAT TTATATTTATATATTTATATATTTATATATTTATATATTATATATTTATA TTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATT TATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	ATGCATGG others(796): Show ATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGACGGATGGAT GGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGG AAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTG GATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGG TGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGG TGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGG TGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATG TATGGAAGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGA TGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATG GATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCA TGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATG CATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGA TGCATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTA GGTGGATGGATGCATGGATTGAAGTATGGGTGGATGGGTGGGTGGGTGGG TGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03195.hp1 others(3): Show HG02572.hp1 HG02809.hp1 HG03195.hp1 NA18522.hp2 NA18995.hp1 NA19064.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0047 a0002c0003 a0002c0022 others(1): Show a0001c0047 a0002c0003 a0002c0022 a0005c0015	a0001c0047t0001 a0002c0003t0001 a0002c0022t0003 others(1): Show a0001c0047t0001 a0002c0003t0001 a0002c0022t0003 a0005c0015t0011	a0001c0047t0001g0174 a0002c0003t0001g0374 a0002c0022t0003g0147 others(3): Show a0001c0047t0001g0174 a0002c0003t0001g0374 a0002c0022t0003g0147 a0002c0022t0003g0148 a0005c0015t0011g0172 a0005c0015t0011g0173	6	288	0.0208	803	c.59- others(818): Show c.59-3884_59-3883insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATC CACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCA CCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATA CTTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTC CATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCA TGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATC CATGCATCCACCCACCCACCCATCCACCCATACTTCATCCATCCATCCGT CCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCC ACCCATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCAC CCATACTTCCATCCATCCATGCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GPR35_chr2_240620480_240638159	240625887	G G	GGGTTCTC others(796): Show GGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAG TGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGG GGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAG CTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTG GGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTGAGGCTGTGACGGGG TCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCT CTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTC TCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAGGCTGTGATGGGGGTCTC AGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGAT GGGTTCTCAGAGCGGGGTGAGGCTATGACGGGGGTCTCAGAGCGGGGTGA GTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAG CGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGG TCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGCGAGGCTG TGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	343	0.0029	803	c.-5+ others(816): Show c.-5+321_-5+322insTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTC TCAGAGTGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAG GTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGA TGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGT GAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCA GAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATG GGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGA GGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAG TGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAGGC TGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCG GGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGGGGT CTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCT GACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGC GAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAG AGTGGGGCGAGGCTGTGACGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925804	T T	TTGGTTGG others(796): Show TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0366 a0001c0001t0059g0366	1	364	0.0027	803	c.666 others(820): Show c.666-4684_666-4683insTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAA CCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(796): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATATGTGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATA TACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAA CCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAAC ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	204	0.0049	803	c.-36 others(814): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA TGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTG GAACCAATACATACACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATC TGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATATGCAA CATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCA ATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(796): Show TAATATATATACGGAATATATATATACGGAATGTATATATAATATATATA CGGAATATATATATACGGAATGTATATATAATATATATACGGAATATATA TATACGGAATGTATATATAATATATATACGGAATATATATATACGGAATG TATATATAATATATATACGGAATGTATATATACGGAATGTATATATAATA TATATACGGAATATATATATACGGAATGTATATATAATATATATACGGAA TGTATATATACGGAATGTATATATAATATATATACGGAATGTATATATAC GGAATGTATATATAATATATATACGGAATGTATATATACGGAATGTATAT ATAATATATATACGGAATGTATATATACGGAATGTATATATAATATATAT ACGGAATGTATATATACGGAATGTATATATAATATATATACGGAATGTAT ATATACGGAATGTATATATAATATATATACGGAATGTATATATACGGAAT GTATATATAATATATATACGGAATGTATATATACGGAATGTATATATAAT ATATATACGGAATGTATATATACGGAATGTATATATAATATATATACGGA ATGTATATATACGGAATGTATATATAATATATATACGGAATGTATATATA CGGAATGTATATATAATATATATACGGAATGTATATATACGGAATGTATA TATACGGAATGTATATATACGGAATGTATATATACGGAATGTATATACGG AATGTATATATGGAATGTATATATATGGAATGTATATATGGAATATATAT ATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0084 a0001c0001t0039g0084	1	62	0.0161	803	c.-21 others(814): Show c.-2147_-2146insAATATATATACGGAATATATATATACGGAATGTA TATATAATATATATACGGAATATATATATACGGAATGTATATATAATATA TATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATA TATATATACGGAATGTATATATAATATATATACGGAATGTATATATACGG AATGTATATATAATATATATACGGAATATATATATACGGAATGTATATAT AATATATATACGGAATGTATATATACGGAATGTATATATAATATATATAC GGAATGTATATATACGGAATGTATATATAATATATATACGGAATGTATAT ATACGGAATGTATATATAATATATATACGGAATGTATATATACGGAATGT ATATATAATATATATACGGAATGTATATATACGGAATGTATATATAATAT ATATACGGAATGTATATATACGGAATGTATATATAATATATATACGGAAT GTATATATACGGAATGTATATATAATATATATACGGAATGTATATATACG GAATGTATATATAATATATATACGGAATGTATATATACGGAATGTATATA TAATATATATACGGAATGTATATATACGGAATGTATATATAATATATATA CGGAATGTATATATACGGAATGTATATATAATATATATACGGAATGTATA TATACGGAATGTATATATACGGAATGTATATATACGGAATGTATATATAC GGAATGTATATACGGAATGTATATATGGAATGTATATATATGGAATGTAT ATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(796): Show TATATATATATGGAATATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATATATG GAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATA TATATGGAATATACGTATGGAATATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATGTATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATACATAT GGAATATATATGTATGGAATATACATATATGGAATATATATGTATGGAAT ATACATATATGGAATATATGTATGGAATATATATATGGAATATATGTATG GAATATATATATATGGAATATATGTATGGAATATATATATATGGAATATA TGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAA TATATGTATATGGAATATATATATGGAATATATGTATATGGAATATATAT ATGGAATATATGTATATGGAATATATATATGGAATATATGTATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0188 a0002c0002t0033g0188	1	205	0.0049	803	c.-19 others(814): Show c.-1920_-1919insATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGA ATATATATATATATGGAATATACGTATGGAATATATATATATGGAATATA CGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGA ATATATATGTATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATACATATGGAATATATATGTATGGAATATACATATATGGAAT ATATATGTATGGAATATACATATATGGAATATATGTATGGAATATATATA TGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATA TATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGG AATATATATATGGAATATATGTATATGGAATATATATATGGAATATATGT ATATGGAATATATATATGGAATATATGTATATGGAATATATATATGGAAT ATATGTATATGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(796): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGG CCAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0194 a0001c0003t0003g0194	1	241	0.0041	803	c.430 others(818): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(796): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATATT TATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATATATA GTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATTTTTATATATATAGTTATA TATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTA TATATTTATATATATTTATATATATTTATATATATATTTATATATTTATT TATATATATTTATATATGTATTTATATATATTTATATATATTTATATGTA TTTATATATATTTATATATATTTATATATATATATATAAATATATTTATA TATATAAATATAAATATTTATATATATTTATATATATATATATATATATT TATGTATATTTATATATATTTATATATATATTTATGTATATTTATATATG TATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0259 a0003c0003t0002g0259	1	80	0.0125	803	c.125 others(820): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATATATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATTTATATATATAGTTATATATTTATATATATTTATATATATTTATATA TATATTTATATATTTATTTATATATATTTATATATGTATTTATATATATT TATATATATTTATATGTATTTATATATATTTATATATATTTATATATATA TATATAAATATATTTATATATATAAATATAAATATTTATATATATTTATA TATATATATATATATATTTATGTATATTTATATATATTTATATATATATT TATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(796): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAG AGGGAGGGGGAGGGGGAGGGAAGGGAGGAGGGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGG GGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGG AGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0268 a0001c0001t0013g0268	1	8	0.1250	803	c.250 others(818): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCC CCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCC TCCCCCTCCACTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCC CTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCTC CCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTC TCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCTCACCCCTT TCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTT TCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTC CCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(796): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGA AAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGA AGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAG GATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGG GATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGG AGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	8	0.1250	803	c.250 others(818): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCC CCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCC CTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCTTCCCCCCTTCCCCCCACCCCCTTTCCCCCTTCCCCCCGCCCC TTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTC TCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(796): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCA CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCAC CTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGC TCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACC ATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	101	0.0099	803	c.133 others(822): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCCCTCTCCCACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAG CTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(796): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACC CCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	6	0.1667	803	c.-8+ others(816): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGG GCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(796): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACACACACCATACACCACAC ACACACCACACACTACACACCACACCCACCCACGCATACCACACATATCC CCTTACATACCACACACATCCCCTACACACACGCCACATACACACACCAT ACACATCCCCCACAGACACACATACCCCTACATACCACACACATCCCCTA CACACATGCCATACACACACCATACACATCCCCCACAGACACACATACAC ACCACACACATACACAAACACTGCACACATACACACCCCACACATACAAC ACACACGACACACCACACACATACACAAACACTGCACACATACACACCCC ACACATACAACACACACGACACACCACACAACCATACAGACACAAACACA TACACCACACACACCACATACACAACAAACATGCCACACACAAATACCAC ACACACCACATACACACACCCCCCATTCACCACACACCACATACACACCA TTCACACTACACATACACTCCACACACACACCACATACACACCATACACA CCACACATATCTCCACACACACACCACATACATACACATCCCATCCACAC ACACCACACACCCACACACACACACTCCAAACTCCACACACACTCCAAAC ACCACACAAATACACCTACACACACATCACACACCCACACCACACACACA CCACACAAACATGCCACACACATACCCCACACCATACACACACACACACC AAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0155 a0002c0003t0001g0155	1	121	0.0083	803	c.201 others(820): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATG TGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGG GGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGT GTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTG GGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTATGT GTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTG TGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(796): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACC CCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	5	0.2000	803	c.15 others(814): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(796): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC CCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGA GGAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0076 a0002c0005t0004g0076	1	43	0.0233	803	c.575 others(824): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(796): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCTCTTTCTTCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	228	0.0044	803	c.306 others(822): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC TCTTTCTTCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTT TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCT TCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(796): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATAATATGTAATACACAATATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACATTATACATTATTATAT AAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATT ATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAA GTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAAT ACATAATACATTATATATAAGCATATAACAATACATAATACATTATATAT AAGCATATAACAATACATAGTACATTATATATAAGCATATAACAATACAT AGTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	19	0.0526	803	c.24+ others(820): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATTA TATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATAT ATATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTA TATAAGCATATAATATATAATACATAATACATTATATATAAGCATATAAC AATACATAATACATTATATATAAGCATATAACAATACATAGTACATTATA TATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(796): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGCATATAATATATAATACAT AATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0028 a0001c0001t0080g0028	1	19	0.0526	803	c.24+ others(820): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATATAT TATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATA AGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(796): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	174	0.0057	803	c.66+ others(818): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(796): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	27	0.0370	803	c.-75 others(822): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(796): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	27	0.0370	803	c.-75 others(822): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATATATATTTATCTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCARA5_chr8_27864883_27997673	27918975	A A	AGGAGGAG others(796): Show AGGAGGAGGAGGGGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAG GAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGG AAGGAGGAGGAGAAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAA GGAGGAGGAAGAGAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGA GAAGGAGGAACAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGG AGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGG AGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAG AAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGA GGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGG AAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAG GAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAG CAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAG AAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAAT AGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAGGGAGGAGGAGGAGA GAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0033 a0005c0029t0033	a0005c0029t0033g0128 a0005c0029t0033g0128	1	297	0.0034	803	c.916 others(820): Show c.916+2595_916+2596insCTTCTCTCCTCCTCCTCCCTTCTCTTCT CCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTC TCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTT CCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTC CTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTT TCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTT TCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTC CTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCC CTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTC CTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCT CCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTC TCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCT TTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTC CTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTC CTCCTCTTCCTTCCCCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(796): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCC TCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCA TTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTC TACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACA AGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCA ACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAA CCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAA CCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0074 a0002c0005t0074	a0002c0005t0074g0056 a0002c0005t0074g0056	1	192	0.0052	803	c.89- others(816): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGG GGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(796): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCC CCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCC CACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAA GCATCACTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATC ACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCA ACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAA CCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAA CCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18950.hp2 NA19005.hp1 others(1): Show HG02083.hp1 NA18950.hp2 NA19005.hp1 NA19066.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0005 a0003c0007 a0006c0015 a0002c0005 a0003c0007 a0006c0015	a0002c0005t0001 a0003c0007t0002 a0006c0015t0007 a0002c0005t0001 a0003c0007t0002 a0006c0015t0007	a0002c0005t0001g0059 a0003c0007t0002g0067 a0006c0015t0007g0026 others(1): Show a0002c0005t0001g0059 a0003c0007t0002g0067 a0006c0015t0007g0026 a0006c0015t0007g0069	4	195	0.0205	803	c.89- others(816): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGG GAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAG GGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGT TGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTG GAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGC AATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTA TGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTG TGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGG GGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(796): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGAGGGA GGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGA GGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGG GAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGA GGGAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGAGGGGGAGGCAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGG GAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGA GGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGA GAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0011 a0002c0061t0011	a0002c0061t0011g0051 a0002c0061t0011g0051	1	2	0.5000	803	c.227 others(822): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCGTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(796): Show CCCCACCCAGCCTCTCCCCTCTGTGCCCCCACCCAGCCTCTCCCCTCTGT GCCCCACCCAGCCTCTCCCACTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGGCTCTCCCCCC CCGTGCCCCACCCAGCCTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCACCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCTCTGTGCCCCACCAGCTCTCCCCTCTGTGCCCCACCAGC CTCTCCCCCCCGTGCCCCCACCAGCCTCTCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CACAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTC TGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	333	0.0030	803	c.-13 others(814): Show c.-1351_-1350insCACAGAGGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGTGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGG TGGGGGCACGGGGGGGAGAGGCTGGTGGGGCACAGAGGGGAGAGCTGGTG GGGCACAGAGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGG GTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGTGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGG AGAGGCTGGGTGGGGCACGGGGGGGGAGAGCCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG TGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGGGTGGGGGCACAG AGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(796): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0133 a0001c0001t0017g0133	1	24	0.0417	803	c.82+ others(818): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(796): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0137 a0001c0001t0015g0137	1	24	0.0417	803	c.82+ others(818): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCTT others(796): Show CCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTT CCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTC CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCC CCCTTCCCTCCTCCCTCCCCTCCCCCCTTCCCTCCTTCCTCCCCTCCCCC TCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCT CCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCC TCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCT CTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCT CCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACC TGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCC CTCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0037 a0003c0006t0002g0037	1	9	0.1111	803	c.4-1 others(816): Show c.4-1377_4-1376insTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCC CCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCT CCTTCCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTT CCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCC CTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCC TCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCCTTCCCTCCTTC CTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCC CCTCCCCGTCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCC TCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCC CCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCT CCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCT ACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCT CTCCCCTTCCCCCTCACCTCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(796): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACACATATATACATGCGTATATATATACGTATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATGTATATATGTATATATACGTATATACATGTATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATATACGTATATATACATATATACGTATATATATATACGTATA TATACATATATATACATGTATATATATGTGTGTATATATATACGTATATA TACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0257 a0002c0002t0003g0257	1	183	0.0055	803	c.-42 others(814): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACACATATATACATGCGTATATATATACGTATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATAC ATGTATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATATACGTATATATACATATATACGTAT ATATATATACGTATATATACATATATATACATGTATATATATGTGTGTAT ATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975373	A A	AAATATTT others(797): Show AAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATAT TTATAGATAAATATATAAATATATATATATTTATATATTTATAGATAAAT ATATAAATATATATATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAG ATAAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGAT AAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAAT ATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTT TTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAG ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTT TTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAAT ATATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG02258.hp1 HG02976.hp2	a0001 a0008 a0001 a0008	a0001c0016 a0008c0060 a0001c0016 a0008c0060	a0001c0016t0008 a0008c0060t0006 a0001c0016t0008 a0008c0060t0006	a0001c0016t0008g0295 a0008c0060t0006g0192 a0001c0016t0008g0295 a0008c0060t0006g0192	2	269	0.0074	804	c.130 others(823): Show c.1308+1203_1308+1204insGATATATTTATCTATAAATATAAAAA TATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTA TATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATA TTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTA TATATTTATCTATAAATATATAAATATTTATATATTTATCTATAAATATA TAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATA GATAAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTA TATATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTA TAAATATATAAATATATATATATTTATATATTTATCTATAAATATATAAA TATATATATATTTATATATTTATCTATAAATATATAAATATTTATATATA TATATTTATCTATAAATATATAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975373	A A	AAATATTT others(797): Show AAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATAT TTATAGATAAATATATAAATATATATATATTTATATATTTATAGATAAAT ATATAAATATATATATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATCG ATAAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGAT AAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAAT ATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTT TTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAG ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTT TTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAAT ATATC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0033 a0001c0016t0033	a0001c0016t0033g0293 a0001c0016t0033g0293	1	268	0.0037	804	c.130 others(823): Show c.1308+1203_1308+1204insGATATATTTATCTATAAATATAAAAA TATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTA TATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATA TTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTA TATATTTATCTATAAATATATAAATATTTATATATTTATCTATAAATATA TAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATA GATAAATATATAAATATTTATATATTTATCGATAAATATATAAATATTTA TATATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTA TAAATATATAAATATATATATATTTATATATTTATCTATAAATATATAAA TATATATATATTTATATATTTATCTATAAATATATAAATATTTATATATA TATATTTATCTATAAATATATAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCCCGTGT others(797): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCC CCGTGTCCCTGCTCTGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	266	0.0038	804	c.38 others(815): Show c.3836_*3837insACGGGGCAGAGACACGGGACGGAGCAGGGACACG GGGGACAGAGCAGGGACACGGGGGACGGAGCAGGGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGGGCAGGGACA CGGGACGGGGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
AFF2_chrX_148495617_149005663	148581356	A A	ATATATAC others(797): Show ATATATACACGTATATACGTATACGTGTACACACATATATATACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACACGTATATACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACAT ACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATAC GTGTACACACATATACCTATACGTGTACACACATATACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0127 a0001c0005t0020g0127	1	79	0.0127	804	c.48- others(821): Show c.48-70636_48-70635insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATAC GTGTACACACACATACACGTATATACGTATACGTGTACACACACATACAC GTATATACGTATACGTGTACACACATATACCTATACGTGTACACACATAT ACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACAC GTATACGTGTACACACATATACACGTATACGTGTACACACATATACACGT ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GCCCTCCC others(797): Show GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCC TCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGG CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	232	0.0043	804	c.202 others(821): Show c.2029-461_2029-460insCCCTCCCTGGCACCAGGCGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAG GTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCT CCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCAC CCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCAC CGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC CGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGT GCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCC CTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCC TCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCT GGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29			chr18	TogoVar
C22orf42_chr22_32144006_32164303	32145546	A A	ATATAATG others(797): Show ATATAATGATATATAATATATTATATTATATAATGATATATAATATATTA TATTATATAATGATATATAATATATTATATAATGATATATAATATATTAT ATTATATAATGATATATAATATATTATATTATATAATGATATATAATATA TTATATTATATGATATATAATATATTATATTATATAATGATATATAATAT ATTATATTATATAATGATATATAATATATTATATTATATAATGATATATA ATATATTATATTATATAATGATATATAATATATTATATTATATAATGATA TATAATATATTATATTATATAATGATATATAATATATTATATTATATAAT GATATATAATATATTATATTATATAATGATATATAATATATTATATTATA TAATGATATATAATATATTATATTATATAATGATATATAATATATTATAT TATATAATGATATATAATATATTATATTATATAATGATATATAATATATT ATATTATATAATGATATATAATATATTATATTATATAATGATATATAATA TATTATATTATATAATGATATATAATATATTATATTATATAATGATATAT AATATATTATATTATATAATGATATATAATATATAATGATATATAATTTA TTATATTATATAATGATATATAATATATAATGATATATAATTTATTATAT GATATAATGATATATAATATAATTTATTATATAATGATATATAATATAAT TTATTATATAATGATATATAATATAATTTATTATATAATGATATATAATA TAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	3	392	0.0077	804	c.39 others(815): Show c.3993_*3994insAATTATATTATATATCATTATATAATAAATTATA TTATATATCATTATATAATAAATTATATTATATATCATTATATAATAAAT TATATTATATATCATTATATCATATAATAAATTATATATCATTATATATT ATATATCATTATATAATATAATAAATTATATATCATTATATATTATATAT CATTATATAATATAATATATTATATATCATTATATAATATAATATATTAT ATATCATTATATAATATAATATATTATATATCATTATATAATATAATATA TTATATATCATTATATAATATAATATATTATATATCATTATATAATATAA TATATTATATATCATTATATAATATAATATATTATATATCATTATATAAT ATAATATATTATATATCATTATATAATATAATATATTATATATCATTATA TAATATAATATATTATATATCATTATATAATATAATATATTATATATCAT TATATAATATAATATATTATATATCATTATATAATATAATATATTATATA TCATTATATAATATAATATATTATATATCATTATATAATATAATATATTA TATATCATTATATAATATAATATATTATATATCATTATATAATATAATAT ATTATATATCATATAATATAATATATTATATATCATTATATAATATAATA TATTATATATCATTATATAATATAATATATTATATATCATTATATAATAT ATTATATATCATTATATAATATAATATATTATATATCATTATATAATATA ATATATTATATATCATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3459		chr22	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(797): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	97	0.0103	804	c.245 others(821): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTACTCC CTTCCCTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar

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