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
PPP1R12B_chr1_202343699_202597702	202391727	TAAATGAA others(410): Show TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGA TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGA TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0070 a0001c0001t0029g0070	1	252	0.0040	-417	c.292 others(19): Show c.292-25059_292-24643del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23			chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799128	TGGTGGTG others(410): Show TGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGT GATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	167	0.0060	-417	c.185 others(19): Show c.1855-4728_1855-4312del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKX_chrX_3599340_3718649	3688183	CGCCTGTA others(410): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATGATCTGAG GCCAAGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCCATCTCTAC TAAAAATACAACGATTAGCCGGGCATGGTGGCAGGCACCTGTAACCCCAG CTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCTGGGAAGCGGAGG CTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGCGACAGAGC GAGACTCTGTCTCCAAAGAAAAAAAAAAGGTTAACTCAAGAAGTGGGCAC AGCCCCCATCCATCTTGTCTACAGCCTGGGAGGCCAGTTACCTGCCACAT TAGCTTGGGAGGGAACATGCTCTTGTTCCACACCTATAGATGGGTGGAGG CCAGGAGCAGTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01069.hp1 others(29): Show HG00280.hp1 HG00609.hp1 HG01069.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01891.hp2 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG04115.hp1 NA18747.hp1 NA18960.hp1 NA18962.hp1 NA18988.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0037 a0001c0001t0043 a0001c0001t0067 a0001c0001t0068 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0090 a0001c0001t0092 a0001c0001t0108 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0002c0003t0008 a0002c0003t0118	a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 others(29): Show a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0031 a0001c0001t0003g0075 a0001c0001t0005g0010 a0001c0001t0006g0029 a0001c0001t0007g0154 a0001c0001t0009g0039 a0001c0001t0009g0096 a0001c0001t0016g0133 a0001c0001t0016g0164 a0001c0001t0019g0157 a0001c0001t0025g0024 a0001c0001t0025g0093 a0001c0001t0028g0129 a0001c0001t0030g0132 a0001c0001t0037g0074 a0001c0001t0043g0033 a0001c0001t0067g0009 a0001c0001t0068g0095 a0001c0001t0081g0046 a0001c0001t0082g0123 a0001c0001t0083g0124 a0001c0001t0090g0145 a0001c0001t0092g0115 a0001c0001t0108g0173 a0001c0001t0133g0221 a0001c0001t0134g0223 a0001c0001t0135g0222 a0002c0003t0008g0206 a0002c0003t0118g0219	32	225	0.1422	-417	c.167 others(19): Show c.167-13834_167-13418del	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	1/8			chrX	TogoVar
SDHA_chr5_213320_262082	261489	GAGCATTA others(410): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTC CCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGT GTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0005 a0001c0009t0001g0005	1	260	0.0038	-417	c.50 others(11): Show c.5070_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4408		chr5	TogoVar
SIGIRR_chr11_400716_419999	401269	ACACCCGC others(410): Show ACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGCCCCGCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	238	0.0042	-417	c.42 others(11): Show c.4210_*4626del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4446		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072161	GGCATCAC others(410): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC AGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	118	0.0085	-417	c.224 others(19): Show c.2241+1055_2241+1471del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC35F3_chr1_233899676_234329511	233947555	CGAAGGGC others(410): Show CGAAGGGCTCAAATGGGTACCACTACAGTTAAACCACAAGGCTAGATAAT TAGGAAAAATTATCTAAAAAACAGGGCTGGAAACAGGCGTTTCTATGATA GACTTGCTTGCACCTCATATGGGAACCAGGATGATCTGAATTTTATCAAG CATCCCACAGGACATGTGTCCATACTCCCTGGGACAGTAAGAGGGAGGAG AGAGAGAGAGAGAGAGAAGAGAGAGGAGAGAGAGAATGTGTGAACGTGTA GCAAGATGATTTATTCTCAAGGCTGAGAGCCAAAAAAAGAGAAGTCTTAG TGGGCATTATCAAAGTTTGTTCTTCCTCCAGCCCCATCTTTGATCCTGCT GGGACTCCCAGGAGGGATTTCCATGTCAATCTCAGTGGTTTGTAATTGAG GTCAGTGTCTTCCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	158	0.0063	-417	c.283 others(19): Show c.283+41860_283+42276del	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR1_chr4_10069339_10121799	10117421	GGGGTTAC others(410): Show GGGGTTACTCTTTGTTGGGCCTGAACTCGTGCTTTTTCTCTCAAAAGTTG AGCTTTTGAAAGGCAAAAAAGGCGTGGGGGATGGGGGAGCTGTCGGTCTT AAGGAAGTTAAAGGTTATTTCCTAAACAAAACAAGTCTCACTCCTAAAAC CAGGGTAGTGGCTCAGTTGTGGCGGGAGAGCAGGGGCTGTAAAGTGTCCA AGTTTCTAGTCTCATCTTTCAGTAGGATGGGTACAAGCTTTCCCCTTGGG GCTCTGGGGGCTGGGAGGGTTGTAAAAGTGGGAGAAAGCAAAGTATTTGG CGGGGTGCGGGCGGGTAGCTGAATGTTGTTGTAAGTGGAAGAGGAATGCT GTTGGCGTCTTTCTCTAAGCACGGTTAAGTGCTTTTTCTTGAAGTAGTTA CTGGCAACAAGAACGTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02165.hp1 others(3): Show HG02027.hp2 HG02056.hp1 HG02165.hp1 NA18747.hp2 NA18960.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0263 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0263 a0002c0002t0001g0264	6	412	0.0146	-417	c.-11 others(10): Show c.-1172_-756del	WDR1	ENSG00000071127.18	transcript	ENST00000499869.7	protein_coding		623		chr4	TogoVar
ZSWIM7_chr17_15971560_16004704	15979585	CCTCCCGG others(410): Show CCTCCCGGACGAGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCC CTCCCGAATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGGGCTGAACCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGTGCCCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG04184.hp2 others(4): Show HG02015.hp1 HG02080.hp1 HG04184.hp2 NA18947.hp1 NA18985.hp1 NA18995.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0165 a0001c0001t0004g0171 others(1): Show a0001c0001t0004g0010 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0172	7	342	0.0205	-417	c.306 others(17): Show c.306+1038_307-1423del	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
ATP6V1A_chr3_113742035_113817056	113761672	ATTGTGGT others(409): Show ATTGTGGTGAGCCAAGATCGCGCCATTGCACTGCAGCCTGGGCAACAAGA GCAAAACTCTGTCTCAAAAAAAAAAAAGTTTCTAAGTATTTTAAGCAATT GCCTTTTTAAAGTAGTCATACAGTTTCTAGTTTGACTTCTTTTGAAGGTG ATAATTTTCCTGCATGATTGCCTGAATTTTGAAAAAAATTGGTAAAGTTG GCTGGGCACAGCAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAA GCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG TAGAAACCCCAACTCTACTAAAAATACATAATTAGCTGGGCATGGAGGCA CATGCCTGTAATCGCAGCTACTCTGGAGGCTGAAGCAGGAGAATTGCTTG AACCCGGGAGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	310	0.0032	-416	c.-14 others(19): Show c.-14+14843_-14+15258del	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
C2CD4C_chr19_400445_414147	404416	GGGGACGG others(409): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGGCACGGGGTCCTGCCCTGAGGGGTGTGGGGGG GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT CTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCC TGCCCTGAGGGGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	318	0.0031	-416	c.22 others(11): Show c.2264_*2679del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1028		chr19	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(409): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(18): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01358.hp1 HG02027.hp1 HG02132.hp1 HG03239.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18945.hp1 NA18961.hp1 NA18965.hp2 NA18984.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19055.hp1 NA19080.hp2 NA19085.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0028 a0003c0009t0006	a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0185 others(18): Show a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0006g0083 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0017g0086 a0001c0001t0017g0098 a0001c0001t0028g0201 a0003c0009t0006g0003	21	235	0.0894	-416	c.-1- others(13): Show c.-1-665_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127655	AATCTCGG others(409): Show AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAG CTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTGA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0321 a0001c0001t0005g0321	1	183	0.0055	-416	c.-1- others(13): Show c.-1-685_-1-270del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
DPH7_chr9_137549444_137583925	137567460	ACTCTGTC others(409): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	319	0.0031	-416	c.641 others(17): Show c.641-2722_641-2307del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567608	TCTGTCTG others(409): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	335	0.0030	-416	c.641 others(17): Show c.641-2870_641-2455del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FOXQ1_chr6_1307098_1319758	1319342	GCACGCCT others(409): Show GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCA AGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAA ATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGC CAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAA CATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGG TGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0022 a0007c0008t0022	a0007c0008t0022g0000 a0007c0008t0022g0000	1	404	0.0025	-416	c.54 others(11): Show c.5427_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4585		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132303833	GCACACCC others(409): Show GCACACCCTCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTGGGC ACAGCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGACAC ACCCTCGCCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACAC CCTCACCCAGACACAGCCTCACCTGGGCACACCCTCTCCGGGGCACACCC TCGCCCGGACACACCCTCACCCGGGCACACCCTCACCTGGGCACAGCCTC ACCGGGGCACACCCTCACCCAGACACAGCCTCACCCGGGCACACCCTCTC CGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCC AGACACGCCCTCACCCAGACACGCCCTCACCTGGGCACATCCTCACCGGG GCACACCCTCACCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG02080.hp1 others(17): Show HG00423.hp1 HG00639.hp2 HG02080.hp1 HG02080.hp2 HG02895.hp1 NA18747.hp2 NA18945.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(4): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0018 a0001c0035	a0001c0003t0001 a0001c0004t0001 a0001c0008t0002 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0018t0001 a0001c0035t0009	a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 others(17): Show a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0183 a0001c0018t0001g0039 a0001c0035t0009g0140	20	126	0.1587	-416	c.239 others(19): Show c.239-17819_239-17404del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346200	AGACCCGG others(409): Show AGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGT GGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGG ACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGAC CTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGAC CCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCA AAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGAC CTCTGTGCCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	214	0.0047	-416	c.466 others(17): Show c.466-1657_466-1242del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346235	CGGGAGGA others(409): Show CGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAA CAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGG AGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAA CAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	260	0.0038	-416	c.466 others(17): Show c.466-1692_466-1277del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346372	GAGAGCGG others(409): Show GAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACAT CTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAA GAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCT CTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCC GGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCT GTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	284	0.0035	-416	c.466 others(17): Show c.466-1829_466-1414del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346829	CGGGAGGA others(409): Show CGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACC TCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAG CAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTG TGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	253	0.0040	-416	c.466 others(17): Show c.466-2286_466-1871del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347001	CGGACCCG others(409): Show CGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTG GCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGA TCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC CAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	231	0.0043	-416	c.466 others(17): Show c.466-2458_466-2043del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
JAKMIP3_chr10_132060946_132189858	132161101	GGGGGGGG others(409): Show GGGGGGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGAT GCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGAT GCTGGGGGACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGA TGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGTGGTCTCTCCCTGTGT GATGCTGGGGTGGTCTCTCCCTGTGTGATGTTGGGGGGGCGGTCTCCCTG TGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTC CTGTGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCT TCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGTC TCTTCCTGTGTGATGCT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0061 a0001c0022t0002g0061	1	154	0.0065	-416	c.222 others(19): Show c.2221-2101_2221-1686del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	904098	TGTGGTGG others(409): Show TGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGT GGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTG GTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTCGTGGTGA CCTCTGCATCGCCCACAGGACGCCTGTCTCTGATGTGTGGTGGTGACCTC TGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGC ATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGC CCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGT GGGGACGCCCGTCTCTGCTGCGTGGTGGTGACCTCTGCACCGCCCACAGG ACGCCTGTCTCTGCTGC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0279 a0001c0010t0001g0279	1	291	0.0034	-416	c.663 others(17): Show c.663+6417_663+6832del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004609	ACATCTAT others(409): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGC	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA20805.hp2 NA19000.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0233 a0001c0001t0001g0159 a0001c0001t0001g0233	2	244	0.0082	-416	c.131 others(19): Show c.1319+1784_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MELTF_chr3_196996740_197034817	197033605	CACCTGCA others(409): Show CACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCCAACTGGTT GGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTG CCAACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGATGT TACTCTCTTGCTGACTGGTTACTGTGTGAGCACCTGCAGTAGTGTGATGT CAGAGGATGTTACACTCTTGCTGACTGGTTGGGTGTGAGCACCTGCAGTC GTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGTGGTGTGAGC ACCTGCAGTAGTGTGATGTCAGAGCATGTTACACTCTTGCTGACTGGTTG GGTGTGAGCACCTGCAGTCGTGTGATGTCAGAGGATGTTACACTCTTGCT GACTGGTTGGGGTGAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02897.hp2 HG03041.hp2 others(9): Show HG01934.hp2 HG02897.hp2 HG03041.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp2 NA18964.hp2 NA18970.hp2 NA18984.hp2 NA19068.hp2 NA19074.hp2 NA19083.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0013c0021	a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 others(4): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0003t0005 a0001c0003t0013 a0001c0022t0003 a0013c0021t0045	a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 others(7): Show a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 a0001c0002t0009g0034 a0001c0002t0009g0035 a0001c0003t0005g0095 a0001c0003t0013g0030 a0001c0003t0013g0094 a0001c0022t0003g0091 a0013c0021t0045g0122	12	417	0.0288	-416	c.-43 others(11): Show c.-4319_-3904del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3789		chr3	TogoVar
METTL16_chr17_2411049_2516888	2447681	AGCCGCCC others(409): Show AGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCTCCACCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGG GGGTGGGGGTCGGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	296	0.0034	-416	c.729 others(17): Show c.729-6538_729-6123del	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
MUC4_chr3_195741771_195816929	195770954	CGGGTTGG others(409): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGG TTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCT CGTGGTTGGGTTGGTGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTG GTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0072 a0072	a0072c0122 a0072c0122	a0072c0122t0007 a0072c0122t0007	a0072c0122t0007g0186 a0072c0122t0007g0186	1	235	0.0043	-416	c.132 others(19): Show c.13242+282_13243-584del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
PLCB1_chr20_8127266_8889900	8433393	GCTTCTTT others(409): Show GCTTCTTTTGATTTGCAATGTGGAAGCTGCTTTTGCTCATGCTTTCTGAA GATCTTCCATAAAGAGGGGAACTGCGAATTGCAAAGTAAAGCCCCTGCTG TGGAGTGAATTTGCTTATGTCACACTCTATCTGAGTGACCCTTAGGAAGT TCCCTAATCTCCCATGCCTGTTTTCTGGGTTGTAAATGCAAGTAATAAAA GTAACTGCCTCATAGGTTTGTTGCAAGTATTAAATAAGAAAATTTATAAC GGACATAAAAGGGAGTTGGCATAGAGTTAATGTTCAGTAAATGACGAGTG TATCCTTCTCCTCTTCCTCCTCCTCCTCCTCATCCTCCTCCTCCTCCTCC TCATGGACAATTGGTTTCATCCATCTGATAATGAAACACTGTGAATTGCC CCCAGGAGTGCTTTAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01346.hp2 others(12): Show HG00639.hp2 HG01109.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0018 a0005c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0009 a0001c0004t0021 a0001c0006t0002 a0001c0006t0006 a0001c0006t0020 a0001c0011t0006 a0001c0018t0017 a0005c0017t0009	a0001c0001t0001g0019 a0001c0001t0006g0096 a0001c0001t0016g0064 others(12): Show a0001c0001t0001g0019 a0001c0001t0006g0096 a0001c0001t0016g0064 a0001c0002t0001g0020 a0001c0002t0003g0079 a0001c0002t0004g0026 a0001c0003t0001g0043 a0001c0003t0009g0059 a0001c0004t0021g0042 a0001c0006t0002g0055 a0001c0006t0006g0024 a0001c0006t0020g0074 a0001c0011t0006g0051 a0001c0018t0017g0018 a0005c0017t0009g0022	15	106	0.1415	-416	c.246 others(19): Show c.246+61944_246+62359del	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLD5_chr1_242077986_242529697	242393235	TGTGTATA others(409): Show TGTGTATATATATGAGTATATATATGTGTATATATATGAGTATATATATG TGTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTG TATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGTA TATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGTATA TATATGAGTATATATATGTGTATATATATGAGTATATATATGTGTATATA TGAGTATATATATGTGTATATATGAGTATATATATATGTGTATATATGTG AGTATATATATGTGTATATATATGAGTATATATGTGTATATATATGAGTA TACATATGTGTATATATATGAGCATATATGTGTATATATATGAGTATATA TATGTGTATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00735.hp2 others(27): Show HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01261.hp1 HG01433.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0036 a0001c0001t0041 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0081 a0001c0001t0083 a0001c0002t0009 a0001c0002t0011 a0001c0002t0023 a0001c0002t0024 a0001c0002t0039 a0001c0002t0059 a0001c0002t0065 a0001c0002t0078 a0002c0003t0002 a0002c0005t0001 a0003c0004t0004	a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0069 others(27): Show a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0002g0074 a0001c0001t0006g0094 a0001c0001t0007g0027 a0001c0001t0007g0039 a0001c0001t0018g0050 a0001c0001t0036g0025 a0001c0001t0041g0008 a0001c0001t0045g0021 a0001c0001t0049g0115 a0001c0001t0051g0114 a0001c0001t0052g0119 a0001c0001t0055g0122 a0001c0001t0081g0180 a0001c0001t0083g0181 a0001c0002t0009g0171 a0001c0002t0011g0157 a0001c0002t0023g0155 a0001c0002t0024g0144 a0001c0002t0039g0108 a0001c0002t0059g0151 a0001c0002t0065g0133 a0001c0002t0078g0160 a0002c0003t0002g0077 a0002c0005t0001g0109 a0002c0005t0001g0110 a0003c0004t0004g0049	30	186	0.1613	-416	c.190 others(19): Show c.190-45409_190-44994del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
SDHA_chr5_213320_262082	259282	GAGCATTA others(409): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGC TCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCCCCCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01516.hp2 others(14): Show HG00735.hp1 HG01069.hp2 HG01516.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03490.hp2 HG04228.hp2 NA18941.hp1 NA18943.hp2 NA18957.hp2 NA18968.hp1 NA18973.hp2 NA18984.hp1 NA18992.hp1 NA19004.hp2 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0006 a0001c0001 a0001c0009 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0009t0001 a0003c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0002g0050 a0001c0001t0004g0001 a0001c0009t0001g0063 a0003c0006t0001g0049	17	245	0.0694	-416	c.28 others(11): Show c.2863_*3278del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2201		chr5	TogoVar
SDHA_chr5_213320_262082	260721	GAGCATTA others(409): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA GCTCCGCCTCCCGTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	262	0.0038	-416	c.43 others(11): Show c.4301_*4716del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3639		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168560494	GCCCTGAG others(409): Show GCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0012 a0005c0006t0012	a0005c0006t0012g0018 a0005c0006t0012g0018	1	173	0.0058	-416	c.637 others(19): Show c.637+11300_637+11715del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(409): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18963.hp1 HG00558.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0081 a0001c0002t0002g0021 a0001c0001t0001g0081 a0001c0002t0002g0021	2	165	0.0121	-416	c.637 others(19): Show c.637+11369_637+11784del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560884	ATTCTTGG others(409): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	128	0.0078	-416	c.637 others(19): Show c.637+11705_637+12120del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561066	GCCCTGAG others(409): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	175	0.0057	-416	c.637 others(19): Show c.637+11889_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561378	GCCCTGAG others(409): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	173	0.0058	-416	c.637 others(19): Show c.637+12201_637+12616del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561690	GCCCTGAG others(409): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 NA18943.hp1 HG00099.hp1 HG00673.hp2 NA18943.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0012 a0001c0001t0001 a0005c0006t0012	a0001c0001t0001g0074 a0001c0001t0001g0166 a0005c0006t0012g0018 a0001c0001t0001g0074 a0001c0001t0001g0166 a0005c0006t0012g0018	3	167	0.0180	-416	c.637 others(19): Show c.637+12512_637+12927del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561754	GAGGCTCT others(409): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	154	0.0065	-416	c.637 others(19): Show c.637+12616_637+13031del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561877	CGGAGGAG others(409): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAG GCTCTCACTGCATTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18612.hp1 NA19085.hp1 HG01261.hp1 NA18612.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0111 a0001c0002t0002g0057 a0001c0002t0002g0067 a0001c0001t0001g0111 a0001c0002t0002g0057 a0001c0002t0002g0067	3	173	0.0173	-416	c.637 others(19): Show c.637+12707_637+13122del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561910	AAGGCTCT others(409): Show AAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGC CCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	128	0.0078	-416	c.637 others(19): Show c.637+12720_637+13135del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561929	TGGAGGAG others(409): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	137	0.0073	-416	c.637 others(19): Show c.637+12745_637+13160del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561962	GAGGCTCT others(409): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	168	0.0060	-416	c.637 others(19): Show c.637+12811_637+13226del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106846	GAGTGGTC others(409): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0143 a0007c0016t0001g0143	1	151	0.0066	-416	c.325 others(17): Show c.325+8442_325+8857del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107106	GAGTGGAC others(409): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGAT AATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTGCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02559.hp1 HG02895.hp1	a0009 a0017 a0009 a0017	a0009c0012 a0017c0036 a0009c0012 a0017c0036	a0009c0012t0001 a0017c0036t0001 a0009c0012t0001 a0017c0036t0001	a0009c0012t0001g0066 a0017c0036t0001g0070 a0009c0012t0001g0066 a0017c0036t0001g0070	2	122	0.0164	-416	c.325 others(17): Show c.325+8739_325+9154del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108085	CCTTGGTA others(409): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTG	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01074.hp1 others(14): Show HG00140.hp2 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG02148.hp1 HG02165.hp1 HG03831.hp1 HG04115.hp2 NA18969.hp2 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0020	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0005c0006 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0005c0006t0001 a0020c0021t0001	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 others(14): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0178 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0137 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0154 a0002c0005t0001g0021 a0002c0005t0001g0164 a0002c0005t0001g0168 a0003c0007t0001g0184 a0005c0006t0001g0189 a0020c0021t0001g0119	17	142	0.1197	-416	c.325 others(18): Show c.325+9675_325+10090del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SPATA31C1_chr9_87912962_87928657	87913264	CGCCTGTA others(409): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCAGTCTCTACCA AAAATACAAAAAATTAGCCGGGCGTGGTAGCACATGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCACAGGT TGCCGTGAGCCAAGAGCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTG AGACTCCATCTCAAAAAGAAAGGAAAACTGCAGGTCCTGCACATGTACCC CGGAACTTAAAATAAAATTACATAAGTACATAAATAGAATTTTAAAAAAA TCTTAATTGTATGTGGGTAGGTCCCTTTGATTCAAAGTGAGATAGAAGGA TGGGCGCAGTGGCTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-416	c.-47 others(11): Show c.-4726_-4311del	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		4697		chr9	TogoVar
SPATA31C1_chr9_87912962_87928657	87913326	ACCATCCT others(409): Show ACCATCCTGGCCAACACGGTGAAACCCAGTCTCTACCAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCACATGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCAGGAGGCACAGGTTGCCGTGAGCCA AGAGCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTC AAAAAGAAAGGAAAACTGCAGGTCCTGCACATGTACCCCGGAACTTAAAA TAAAATTACATAAGTACATAAATAGAATTTTAAAAAAATCTTAATTGTAT GTGGGTAGGTCCCTTTGATTCAAAGTGAGATAGAAGGATGGGCGCAGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCAGATCACA AGGTCAGGAGATCGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-416	c.-46 others(11): Show c.-4664_-4249del	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		4635		chr9	TogoVar
SPATA31C1_chr9_87912962_87928657	87913337	CAACACGG others(409): Show CAACACGGTGAAACCCAGTCTCTACCAAAAATACAAAAAATTAGCCGGGC GTGGTAGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCATGAACCCAGGAGGCACAGGTTGCCGTGAGCCAAGAGCGTGCCA CTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAGAAAGG AAAACTGCAGGTCCTGCACATGTACCCCGGAACTTAAAATAAAATTACAT AAGTACATAAATAGAATTTTAAAAAAATCTTAATTGTATGTGGGTAGGTC CCTTTGATTCAAAGTGAGATAGAAGGATGGGCGCAGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCAGAGGCGGGCAGATCACAAGGTCAGGAGA TCGAGGCCATCCTGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	198	0.0051	-416	c.-46 others(11): Show c.-4653_-4238del	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		4624		chr9	TogoVar
THEG_chr19_356747_381026	376684	CCCCCTCT others(409): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0002 a0004c0020t0002	a0004c0020t0002g0048 a0004c0020t0002g0048	1	367	0.0027	-416	c.-11 others(10): Show c.-1130_-715del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		659		chr19	TogoVar

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