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
SNAPC4_chr9_136370571_136405170	136403327	G G	GAGAAAGG others(463): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA GGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGG TTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCC CAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCA AGGGGTGGGGTTTGCCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	380	0.0026	470	c.-32 others(481): Show c.-3204_-3203insTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCT GTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTC CCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCT TTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTC TCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCC CCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCC GGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGC AAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAA CCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCT	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3158		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403393	A A	AGGGAGCA others(463): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAG CAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAA GGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGG GTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTG GGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGG TTTGCCGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTT GCCGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCC GGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGAGAAAGGGACAGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	380	0.0026	470	c.-32 others(481): Show c.-3270_-3269insAGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCC ACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACC CCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCT TGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGC TCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCC CTGGGACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTG GGACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3224		chr9	TogoVar
SNPH_chr20_1261294_1314327	1301629	A A	ATCTAATT others(463): Show ATCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCAT TAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAA ATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAAT ATTTGGTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04204.hp2 NA20805.hp2 HG01168.hp2 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0019 a0001c0001t0017 a0001c0001t0019	a0001c0001t0017g0263 a0001c0001t0019g0147 a0001c0001t0019g0168 a0001c0001t0017g0263 a0001c0001t0019g0147 a0001c0001t0019g0168	3	350	0.0086	470	c.440 others(485): Show c.440+929_440+930insCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTGGTATCACCTCAAAATAAACCCCATTCCCATTAGCAAT CACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACC CCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTA TCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAA TTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAA TCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAAC CCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCAT	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SORCS2_chr4_7187538_7747827	7724696	T T	TTGGTGAT others(463): Show TTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGACA ATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTG GTGGGAATGGATGGTGGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGG TGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTG GTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGAT GGTGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTG GTGGTGTTGGTGATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATGGT GGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAG TTATGGTGATGATGGTGGTAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	168	0.0060	470	c.261 others(487): Show c.2612-439_2612-438insGTTGGTGGGAATGGATGGTGGTAGTAGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGA CAATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTAG TGGTGGGAATGGATGGTGGTGGTGATGGTGGTGGTGTTGGTGATGATGGT GGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGG TGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTG ATGGTGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGG TGGTGGTGTTGGTGATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATG GTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGT AGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGATAGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190091	A A	AATGATAT others(463): Show AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATATTATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATATAACAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0166 a0001c0001t0019g0166	1	356	0.0028	470	c.-11 others(491): Show c.-112+29167_-112+29168insTAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TTATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATATAACATATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852224	A A	AGATCCCC others(463): Show AGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCCCAACCCCCCAGATCCCATGGCCCATCTTCCGTCCTCCCTCTC ACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGA TCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCTGGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCC ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTT CCGTCCTCTCCCCACCCCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02486.hp1 others(4): Show HG01243.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0164	7	356	0.0197	470	c.645 others(487): Show c.645+1570_645+1571insCTGGCCCATCTTCCATCCTCCCTCCACC CCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC ATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCATGGCCCATCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCT CTCTCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCC TGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCC ATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCGGAT CCCCTGGCCCATCTTCCGTCCTCTCCCCACCCCCTGGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SWAP70_chr11_9659077_9757993	9706078	C C	CTGGTGAT others(463): Show CTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATC TGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTG ATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGG TGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACT GGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACA CTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATA CACTGGTGATCTGTGTATACT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0028 a0002c0005t0007g0028	1	294	0.0034	470	c.241 others(487): Show c.241-7377_241-7376insGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC TGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGT ATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGT GTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATC TGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGA TCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(463): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGG GGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0154 a0001c0003t0012g0154	1	276	0.0036	470	c.-18 others(489): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCT CCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC TCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCT CTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772076	T T	TACATATA others(463): Show TACATATATATGTATACACACATACATATATATGTATACACACACATACA TATATATGTATACACACACATACATATATATGTATACACACACATACATA TATATGTATACACACACATACATATATATGTATACACACACATACATATA TATGTATACACACACATACATATATATGTATACACACACATACATATATA TGTATACACACACATACATATATATGTATACACACACATACATATATATG TATACACACACATACATATATATGTACACACACATACATATATATGTACA CACACATACATATATATGTACACACACATACATATATATGTATACACACA CATACATATATATGTATACACACACATACATATATATGTATACACACACA TACATATATATGTATACACACACATACATATATATGTATACACACACATA CATATATATGTATACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0021 a0005c0006t0021	a0005c0006t0021g0019 a0005c0006t0021g0019	1	112	0.0089	470	c.62+ others(485): Show c.62+9229_62+9230insCATATATATGTATACACACATACATATATA TGTATACACACACATACATATATATGTATACACACACATACATATATATG TATACACACACATACATATATATGTATACACACACATACATATATATGTA TACACACACATACATATATATGTATACACACACATACATATATATGTATA CACACACATACATATATATGTATACACACACATACATATATATGTATACA CACACATACATATATATGTATACACACACATACATATATATGTACACACA CATACATATATATGTACACACACATACATATATATGTACACACACATACA TATATATGTATACACACACATACATATATATGTATACACACACATACATA TATATGTATACACACACATACATATATATGTATACACACACATACATATA TATGTATACACACACATACATATATATGTATACACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772268	T T	TACACATA others(463): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACACACATATA TATGTATACACACACATATATATGTATACACACATACATATATATGTATA CACACACATATATATGTATACACACACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	112	0.0089	470	c.62+ others(485): Show c.62+9421_62+9422insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACACACATATATATGTATACACACACATATATATGTATACACA CATACATATATATGTATACACACACATATATATGTATACACACACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376952	G G	GTGTGCCC others(463): Show GTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCGTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTG CCCCACCCAGCCTCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	370	0.0027	470	c.-98 others(479): Show c.-983_-982insGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACACGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		927		chr19	TogoVar
THEG_chr19_356747_381026	377496	T T	TCTGTGCC others(463): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	370	0.0027	470	c.-15 others(481): Show c.-1527_-1526insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGG TGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1471		chr19	TogoVar
THSD4_chr15_71110471_71788383	71199804	G G	GTGTGTGT others(463): Show GTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTG CTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGTGGGGTGTGTGTG GGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGTGTGTGTGTAGT GTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGTGTGTGGGTGTG TGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGATGCATGTGTGGAGGGT GTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGATGC ATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTGGT GTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGT GTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCT GTGTGTGTGCTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	116	0.0086	470	c.100 others(489): Show c.100-15223_100-15222insCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTG TGTGGGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATG TGGTGTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTG TGGTGTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGAT GCATGTGTGGAGGGTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGT ATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTA GTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGT GTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM120B_chr12_121707752_121787068	121747431	G G	GCTGGGGT others(463): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	314	0.0032	470	c.189 others(485): Show c.189-856_189-855insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157312860	T T	TAGTTTCC others(463): Show TAGTTTCCCAGTGTCCGGTCACCTAGCCTGATCATAGTGCCCCACGATCA GCTCACTTAGCCTCATCATAGTGCCCCAGTATCCGCTCACCTAAACTCAT CATAGTGTCCCAGTGTGCACTAAGCTGGCCTCATCATAGTGCCCCAGTGT GTGCTCACCTAGCCTCATCATAGTGCCCTAGTGTGCGATCAGATAGCCTC ATCATAGTACCCCAGTGGCCGCTCACCAATCCTCATCATAGTGCGCCAGT GTGCACTCAACTAGCCTCATCATACTGTCCCAGTTTGCGCTCACCTAGCC TCATCATAGTGCCGCAGTGTGAACTCAACTAGCATCACAGTGCCCCAGTG TGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCT CATCATACTGTCCCAGTTTGCGCTCACCTAGCCTCATCATAGTGCCGCAG TGTGAACTCAACTAGCATCAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	344	0.0029	470	c.327 others(487): Show c.327+5921_327+5922insGTGATGCTAGTTGAGTTCACACTGCGGC ACTATGATGAGGCTAGGTGAGCGCAAACTGGGACAGTATGATGAGGCTAG GTGAGCGCACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGG GCACTGTGATGCTAGTTGAGTTCACACTGCGGCACTATGATGAGGCTAGG TGAGCGCAAACTGGGACAGTATGATGAGGCTAGTTGAGTGCACACTGGCG CACTATGATGAGGATTGGTGAGCGGCCACTGGGGTACTATGATGAGGCTA TCTGATCGCACACTAGGGCACTATGATGAGGCTAGGTGAGCACACACTGG GGCACTATGATGAGGCCAGCTTAGTGCACACTGGGACACTATGATGAGTT TAGGTGAGCGGATACTGGGGCACTATGATGAGGCTAAGTGAGCTGATCGT GGGGCACTATGATCAGGCTAGGTGACCGGACACTGGGAAACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2418315	C C	CTCCTTCC others(463): Show CTCCTTCCCTTTCCTTCTCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCC TTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCC CTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTCCCTTCCCTCC CTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTT CCTTCCCTCCCTCCGTTTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0083 a0005c0010t0002g0083	1	114	0.0088	470	c.215 others(487): Show c.2154+180_2154+181insTTCCCTTTCCTTCTCTCCCTCCCTTCCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTC CTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCC CTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTC CATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCC CTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC GTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TWIST2_chr2_238843085_238915534	238870685	C C	CCACACAC others(463): Show CCACACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACACCCCACACACC ACACCCCATACACACCACACACCCCACACACACCACACACCCCACACACA CCACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	338	0.0030	470	c.35 others(489): Show c.35+21960_*35+21961insCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACCACACCCCATACACACCACACACCCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATATAA others(463): Show TAATATAATATATATTATTATATATTATTATATATAATAATATAATATAT ATTATTATATATTATTATATAATAATATAATATATATTATTATATATAAT ATAATATATATTATTATATATAATTATATATAATAATATAATATATATTA TTATATATAATTATATATAATAATATAATATATATTATTATATATAATTA TATATAATAATATAATATATATTATACTTAATTATATATAATAATATAAT ATATATTATTATACATAATTATATATAATAATATAATATATATTATTATA CATAATTATATATAATAATATATTATATATTATTATACATAATTATATAT AATAATATAATATATATTATTATATATTATTATATATAATAATATAATAT ATATTATTATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0138 a0010c0011t0001g0138	1	238	0.0042	470	c.392 others(487): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATTATGTATAATAATATATAATATATTATTATATATAATTATGTATAATA ATATATATTATATTATTATATATAATTATGTATAATAATATATATTATAT TATTATATATAATTAAGTATAATATATATTATATTATTATATATAATTAT ATATAATAATATATATTATATTATTATATATAATTATATATAATAATATA TATTATATTATTATATATAATTATATATAATAATATATATTATATTATAT ATAATAATATATATTATATTATTATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATATAATAATATATATTATATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(463): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	344	0.0029	470	c.218 others(487): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(463): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTC CCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC CCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03704.hp2 HG00280.hp1 HG03704.hp2	a0008 a0018 a0008 a0018	a0008c0009 a0018c0022 a0008c0009 a0018c0022	a0008c0009t0010 a0018c0022t0015 a0008c0009t0010 a0018c0022t0015	a0008c0009t0010g0056 a0018c0022t0015g0054 a0008c0009t0010g0056 a0018c0022t0015g0054	2	246	0.0081	470	c.53- others(483): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC CCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(463): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCCATCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCC TCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC CCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0040 a0003c0003t0040	a0003c0003t0040g0057 a0003c0003t0040g0057	1	246	0.0041	470	c.53- others(483): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCCATCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCC CTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCC CCCTCTCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(463): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATATATTATATATATTATATATATTATATATATTATATATATTAT ATATATATTATATATATAATATATATAATATATATATAATATATATTATA TATATAATATATATATATTATATATATAATATATATATTTAATATATATA TTATATATATAATATATATTATATATATAATATATATATTTAATATATAT TATATATATAATATATATTATATATATAATATATATTTAATATATATATT ATATATATAATATATATATTATATATATATAATATATATATTTAATATAT ATATTATATATATAATATATATATTTAATATATATTATATATATAATATA TATATTATATATATAATAATATATATAATATATATATTATATATATAATA TATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	330	0.0030	470	c.38 others(481): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATTATTATATATATAATATATATATTATATATA TAATATATATTAAATATATATATTATATATATAATATATATATTAAATAT ATATATTATATATATATAATATATATATTATATATATAATATATATATTA AATATATATTATATATATAATATATATTATATATATAATATATATTAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTAAA TATATATATTATATATATAATATATATATATTATATATATAATATATATT ATATATATATTATATATATTATATATATAATATATATATAATATATATAA TATATATAATATATATAATATATATAATATATATATATTATATATATATT ATATATATTATATATATATATATAATATATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
YBEY_chr21_46281342_46302751	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19000.hp1 NA18971.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0259 a0001c0001t0002g0260	2	404	0.0050	470	c.211 others(487): Show c.211-1305_211-1304insCGTGTGTGTGTGTAAGGTTGTCATAGCC TTTGTGCACGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTG TGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTG CAAGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAG GTTGCAGTTTCGTGTGTGCGTGTAAGGTTGTCATAGCCTTTGTGCAAGGT TGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTG CAGTTTCGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCGGTTT TGTATGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTTGTG TGTGTGTGTAAGATTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCATGTG TGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0005t0001 a0003c0003t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0130 others(255): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0226 a0001c0001t0004g0269 a0001c0001t0004g0305 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0005t0001g0196 a0003c0003t0004g0225	268	404	0.6634	470	c.211 others(487): Show c.211-1305_211-1304insCGTGTGTGTGTGTAAGGTTGTCATAGCC TTTGTGCACGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTG TGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTG CAAGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAG GTTGCAGTTTCGTGTGTGCGTGTAAGGTTGTCATAGCCTTTGTGCAAGGT TGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTG CAGTTTCGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCGGTTT TGTATGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTTGTG TGTGTGTGTAAGATTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCATGTG TGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46289983	G G	GTGTGTGT others(463): Show GTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGT GTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCACGGTTGCAGTTTTGTGT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGT GTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGT AAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGCGTGTAA GGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGG TTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCGTGTGTGTAAGGTTGTCA TAGCCTTTGTGCAAGGTTGCGGTTTTGTATGTGTGTAAGGTTGTCATAGC CTTTGTGCAAGGTTGCAGTTTTGTGTGTGTGTGTAAGATTGTCATAGGCT TTGTGCAAGGTTGCAGTTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	404	0.0025	470	c.211 others(487): Show c.211-1305_211-1304insCGTGTGTGTGTGTAAGGTTGTCATAGCC TTTGTGCACGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTG TGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTG CAAGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAG GTTGCAGTTTCGTGTGTGCGTGTAAGGTTGTCATAGCCTTTGTGCAAGGT TGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTG CAGTTTCGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCGGTTT TGTATGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTTGTG TGTGTGTGTAAGATTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCCTGTG TGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46290013	G G	GTGCAAGG others(463): Show GTGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGCCTTTGT GCACGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAA GGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTGCAAGG TTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGC AGTTTCGTGTGTGCGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAG TTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTGCAGTT TCGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCGGTTTTGTAT GTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTTGTGTGTGT GTGTAAGATTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCATGTGTGTGT GTAAGGTTGTCATAGCCTTTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	404	0.0025	470	c.211 others(487): Show c.211-1305_211-1304insCGTGTGTGTGTGTAAGGTTGTCATAGCC TTTGTGCACGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTG TGCAAGGTTGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTG CAAGGTTGCAGTTTTGTGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAG GTTGCAGTTTCGTGTGTGCGTGTAAGGTTGTCATAGCCTTTGTGCAAGGT TGCAGTTTCGTGTGTGTGTGTAAGGTTGTCATAGGCTTTGTGCAAGGTTG CAGTTTCGTGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCGGTTT TGTATGTGTGTAAGGTTGTCATAGCCTTTGTGCAAGGTTGCAGTTTTGTG TGTGTGTGTAAGATTGTCATAGGCTTTGTGCAAGGTTGCAGTTTCATGTG TGTGTGTAAGGTTGTCATAGCCTTTCTGCAAGGTTGCAGTTT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(463): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATATATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATACATATGTATATATGTA TATATGTATAAATATACATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19091.hp1 NA18971.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0055 a0001c0001t0001g0057	2	165	0.0121	470	c.-15 others(491): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATATATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATACATATGTATAT ATGTATATATGTATAAATATACATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(463): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATACATATGTATATATGTA TATATGTATAAATATACATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19056.hp1 NA18986.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0033 a0001c0001t0001g0116	2	165	0.0121	470	c.-15 others(491): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATACATATGTATAT ATGTATATATGTATAAATATACATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(463): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA CATATGTATATATACATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	165	0.0061	470	c.-15 others(491): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATACATATGTATATATACATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(463): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01169.hp1 others(25): Show HG01069.hp1 HG01099.hp1 HG01169.hp1 HG01192.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02074.hp1 HG02615.hp1 HG03017.hp1 HG03041.hp1 HG03492.hp1 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18955.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18977.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0019g0115	28	165	0.1697	470	c.-15 others(491): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(463): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTG TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATGTATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	165	0.0061	470	c.-15 others(491): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTGTATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATGTATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(463): Show GATATATAGCATATATATCATATGTGATATATATCATATGTGATATATAT CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAC ATATATATATCATATATATCACATATATATCATATATATCATATATATAT CATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	350	0.0029	470	c.-35 others(481): Show c.-3503_-3502insATATATAGCATATATATCATATGTGATATATATC ATATGTGATATATATCATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCACATATATATATCATATATATCACATATATATCATAT ATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(463): Show GATATATAGCATATATATCGTATGTGATATATATCATATGTGATATATAT CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAC ATATATATATCATATATATCACATATATATCATATATATCATATATATAT CATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	470	c.-35 others(481): Show c.-3503_-3502insATATATAGCATATATATCGTATGTGATATATATC ATATGTGATATATATCATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCACATATATATATCATATATATCACATATATATCATAT ATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(463): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATAGAAATATATATAT TTCTATATATATAAATATATATATTTATATATATATAAATATATATAGAA ATATATATATTTCTATATATATAAATATATATATTTATATATATATAAAT ATATATATTTCTATATATATAAATATATATATATATAAATATATATATAA ATATATATTTATATATATATAAATATATATATATAAATATATATAAATAT ATATATATTTATATATATAAATATATATATATTTATATATATAAATAAAT ATATATTTATATATATAAATAAATATATATTTATATATATAAATATATAT ATTTTTATATATATAAATATATATATTTTTATATATATAAATATATATAT TTATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0266 a0001c0001t0011g0266	1	400	0.0025	470	c.532 others(485): Show c.532+446_532+447insTATATATTTATATATATATAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATTTATATA TATATAAATATATATATTTATATATATAGAAATATATATATTTCTATATA TATTTATATATATATAAATATATATATTTATATATATAGAAATATATATA TTTCTATATATATAAATATATATATATTTCTATATATATAAATATATATA TTTATATATATAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(463): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTATATATATATAAATATATATATATTTCTATATATATATAAATATAT ATATATTTCTATATATATATAAATATATATATATTTCTATATATATAAAT ATATATATATATAAATATATATATAAATATATATTTATATATATATAAAT ATATATATATAAATATATATAAATATATATATATTTATATATATAAATAT ATATATATTTATATATATAAATAAATATATATTTATATATATAAATAAAT ATATATTTATATATATAAATATATATATTTTTATATATATAAATATATAT ATTTTTATATATATAAATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	400	0.0025	470	c.532 others(485): Show c.532+446_532+447insTATATTTATATATATAAAAATATATATATT TATATATATAAAAATATATATATTTATATATATAAATATATATTTATTTA TATATATAAATATATATTTATTTATATATATAAATATATATATATTTATA TATATAAATATATATATATTTATATATATTTATATATATATATTTATATA TATATAAATATATATTTATATATATATTTATATATATATATATTTATATA TATAGAAATATATATATATTTATATATATATAGAAATATATATATATTTA TATATATATAGAAATATATATATATTTATATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TTTATATATATATAAATATATATATATTTCTATATATATAAATATATATA TTTATATATATAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(463): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTCTATATATATATAAATATATATATATTTCTATATATATATAAATAT ATATATATTTCTATATATATAAATATATATATATATAAATATATATATAA ATATATATTTATATATATATAAATATATATATATAAATATATATAAATAT ATATATATTTATATATATAAATATATATATATTTATATATATAAATAAAT ATATATTTATATATATAAATAAATATATATTTATATATATAAATATATAT ATTTTTATATATATAAATATATATATTTTTATATATATAAATATATATAT TTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18964.hp1 NA18982.hp2 NA18962.hp1 NA18964.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0255 a0001c0001t0003g0042 a0001c0001t0003g0255	3	400	0.0075	470	c.532 others(485): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAGAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TTTATATATATATAAATATATATATATTTCTATATATATAAATATATATA TTTATATATATAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCB5_chr7_20610667_20762008	20669003	C C	CGCCCCAT others(464): Show CGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCGGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGG TCAGCCCCCCGCCCGGCCAGCA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0031 a0031	a0031c0033 a0031c0033	a0031c0033t0003 a0031c0033t0003	a0031c0033t0003g0038 a0031c0033t0003g0038	1	360	0.0028	471	c.170 others(492): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCAGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(464): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	357	0.0028	471	c.278 others(490): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCA TTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATCCATCCCACCCACTCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCC CACCCACTCATTTATCTATCCCACCCACTCATTTATCCATCCCACCTCAT TTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(464): Show GAAAGAAAGAAAGAAAGAGAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAGAGAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0125 a0004c0007t0001g0125	1	376	0.0027	471	c.-11 others(482): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGACAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(464): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCTGACCC CCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCC CGAGACCAAAGGCTGACACCCCCCAGAGACCAAAGGCTGACCCCCCCGCG AGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	276	0.0036	471	c.535 others(488): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCTGGGGGGTGTCAGCCTTTGGTCTCGGGGGGG TCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCA GCCTTTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTC AGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTT GGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGT CTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTC GGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGG GGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132729625	G G	GGAGGAGG others(464): Show GGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGGG AGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAGG GTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGAGGAGGAGAGGGGAG TGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGTCGACGAGT GGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTG GGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGG AGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAG AAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGC GAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	350	0.0029	471	c.248 others(486): Show c.2483+53_2483+54insTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCC CTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACC TTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCC CTCCCCTCCCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCG ACTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTC TCCTCCTCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCT CCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCAC CTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
B3GNTL1_chr17_82937149_83056770	83022594	G G	GAGCTTAG others(464): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAACTCACGTTAG CTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAACTCACGTTAGCTT AGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTCAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTCAGCACT GTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCC CGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGG CCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCC ACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACC TGCACCAGCGTGAACTCACGTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0069 a0001c0002t0008g0069	1	266	0.0038	471	c.298 others(488): Show c.298-8076_298-8075insAACGTGAGTTCACGCTGGTGCAGGTGGG GCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCG GGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGG ACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACA GTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGGACAGT GCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCT GAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTGAG CTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTA ACGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACG TGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(464): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCC CCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGAC CCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCA ACCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGC CGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAG GCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTC AGGCCAACCCCCCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCC CCTCAGGCTGAACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATC TCCCCCTCAGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0013 a0001c0002t0041g0013	1	319	0.0031	471	c.410 others(488): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGGAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGA AGGGGGATGGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTTGGCCT GAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGC CTGAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTC GGCCTGAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGG TCGGCCTGAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(464): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0397 a0001c0002t0019g0397	1	410	0.0024	471	c.-22 others(488): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803214	T T	TGGGGCCC others(464): Show TGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	398	0.0025	471	c.666 others(486): Show c.666+432_666+433insCCCTCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCTCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(464): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0043 a0005c0005t0001g0043	1	398	0.0025	471	c.666 others(486): Show c.666+500_666+501insGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(464): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCT CCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	256	0.0039	471	c.-45 others(492): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(464): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTG ATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGAT GATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGA TGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTA ATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGAT GATGATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGG TGATGGTGATGGTGATGGTGATGGTGATGATGATTGTGATGATGATGGTG ATGGTGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0081 a0081	a0081c0041 a0081c0041	a0081c0041t0001 a0081c0041t0001	a0081c0041t0001g0178 a0081c0041t0001g0178	1	196	0.0051	471	c.-5- others(488): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGG TGATGATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTG ATGATGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGAT GGTAATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGA TGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATG ATGGTGATGGTGATGGTGATGGTGATGGTGATGATGATTGTGATGATGAT GGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(464): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATA GATACATCTATATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGA TATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	440	0.0023	471	c.13 others(482): Show c.1360_*1361insTCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTA TATATCTATATAGATGTATCTATATATATAGATGTATCTATATATCTATA TAGATGTATCTATATATATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATAGATGTATCTATATAGATGTATCTATATATCTATATA GATGTATCTATATATCTATATAGATGTATATATATCTATATAGATGTATC TATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATTATATATCTATATAGATGCATCTATATATCTATATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CEP72_chr5_607340_658553	628568	T T	TCCCAGGA others(464): Show TCCCAGGACCCAGCCCCCTTCTTTGTGCAGCGTTATGGAGAACTCAGGTC ACGGTTCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCT TTTGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCC CCCTTCTTTGTGCAGCTTTTGGAGAACTCAGGTCACCGTCCCCGGGGAGT GTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCGTTATGGAGAACTCAGG TCACGGTTCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAG CTTTTGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAG CCCCCTTCTTTGTGCAGCTTTTGGAGAACTCAGGTCACCGTCCCCGGGGA GTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAG GTCACCGTCCCCGGGGAGTGGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18982.hp1 NA18942.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0070 a0002c0002t0001g0074	2	91	0.0220	471	c.512 others(488): Show c.512+4019_512+4020insGTTATGGAGAACTCAGGTCACGGTTCCT GGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTTGGAGAA CTCAGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTT GTGCAGCTTTTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGTTCCCAGG ACCCAGCCCCCTTCTTTGTGCAGCGTTATGGAGAACTCAGGTCACGGTTC CTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTTGGAG AACTCAGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCT TTGTGCAGCTTTTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGTTCCCA GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACCGTC CCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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