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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TBC1D22A_chr22_46757650_47180693	46772220	T T	TACACATA others(417): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	112	0.0089	424	c.62+ others(439): Show c.62+9373_62+9374insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACATACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(417): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACACATATATA TGTATACACACACACATATATATGTATACACACACATATATATGTATACA CACATACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	112	0.0089	424	c.62+ others(439): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATATGTATACACACACACATATATATGTATACACA CACATATATATGTATACACACATACATATATATGTATACACACACATATA TATGTATACACACACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(417): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACACACATATA TATGTATACACACACATATATATGTATACACACACATATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	112	0.0089	424	c.62+ others(439): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACACACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(417): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCCCTCCCCCTCTCTCCCCCTCCCTCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCC CCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	268	0.0037	424	c.186 others(441): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCCTCTCTCCCCCTCCCTCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGT CCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCC CTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
THEG_chr19_356747_381026	376854	T T	TCCACCCA others(417): Show TCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAG CCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTC CACCCAGCCTCTCCCCCTCTGTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0007 a0018c0034t0007	a0018c0034t0007g0311 a0018c0034t0007g0311	1	370	0.0027	424	c.-88 others(433): Show c.-885_-884insGGTACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGAGG CACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					829		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(417): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGGGTAGGAGAGAGGAAG GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGG GTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGT GGGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	370	0.0027	424	c.-2+ others(439): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCC TAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCC CAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCTTCC TCTCTCCTACCCCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCA CCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAG		TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4						chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(417): Show TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0097 a0002c0002t0105g0097	1	314	0.0032	424	c.189 others(439): Show c.189-312_189-311insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM18_chr2_658877_682406	671858	C C	CCTGCATC others(417): Show CCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAA GGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGT GAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCA TGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACT GAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGG ACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCT GGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCT CCTGGGACTGAACCATGTGAAGGCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18973.hp1 HG01081.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	2	442	0.0045	424	c.233 others(439): Show c.233+949_233+950insCGCCTTCACATGGTTCAGTCCCAGGAGGAC CCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAG GACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAG GAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCC CAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAG TCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTT CAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATG GTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCAC ATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAG		TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4						chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930591	A A	AGGGTTAG others(417): Show AGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	466	0.0022	424	c.49 others(435): Show c.4999_*5000insCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCA ACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4778		chr11	TogoVar
TP73_chr1_3647516_3741201	3694416	C C	CCCTCCTC others(417): Show CCCTCCTCCCGCAATCCCGCACATGCAGCCTCAGCCCCTCCTCCCGCAAT CCAGTCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCC TCAGCCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCCTTCCT CCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCCCCTGCAATCCCAGCC CTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACC CTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCTCC CACAATCCCACCCATGCAGCCTCAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0055 a0004c0029t0055	a0004c0029t0055g0326 a0004c0029t0055g0326	1	358	0.0028	424	c.186 others(443): Show c.186+11238_186+11239insTCCTCCCGCAATCCCGCACATGCAGC CTCAGCCCCTCCTCCCGCAATCCAGTCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCA TGCAGCCTCAGCCCCCTTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCC CCTCCCCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCAT GCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM28_chr19_58539064_58555715	58539989	A A	AAACACCC others(417): Show AAACACCCTGCTTCCCTCCGCAGACAGGATTCTCCCCACAGAGACCCTGC TTCCCTCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCCACTTCCCTCAGACAGGATTCTCCCCACACAGACCC TGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	402	0.0025	424	c.-47 others(435): Show c.-4769_-4768insAACACCCTGCTTCCCTCCGCAGACAGGATTCTCC CCACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTC TCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAG ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCC CTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC ACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCC		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					4074		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58539989	A A	AAACACCC others(417): Show AAACACCCTGCTTCCCTCCGCAGACAGGATTCTCCCCACAGAGACCCTGC TTCCCTCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCCACTTCCCTCAGACAGGATTCTCCCCACACAGACCC TGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02615.hp2 HG02970.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0004t0001 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0006g0003 a0001c0001t0011g0003 a0001c0001t0012g0008 a0001c0004t0001g0003 a0001c0004t0001g0032 a0001c0008t0001g0002 a0001c0010t0001g0002	88	402	0.2189	424	c.-47 others(435): Show c.-4769_-4768insAACACCCTGCTTCCCTCCGCAGACAGGATTCTCC CCACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTC TCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAG ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCC CTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC ACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCC		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					4074		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58539989	A A	AAACACCC others(417): Show AAACACCCTGCTTCCCTCCGCAGACAGGATTCTCCCCACAGAGACCCTGC TTCCCTCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCCACTTCCCTCAGACAGGATTCTCCCCACACAGACCC TGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19088.hp2 NA19054.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	402	0.0050	424	c.-47 others(435): Show c.-4769_-4768insAACACCCTGCTTCCCTCCGCAGACAGGATTCTCC CCACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTC TCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAG ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCC CTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC ACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCTC		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					4074		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58540026	A A	ACAGAGAC others(417): Show ACAGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACACACACCCCACTTCCCTCAGACAGGATTCTC CCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCT CCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCAC ACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA18954.hp1 HG00735.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	402	0.0050	424	c.-47 others(435): Show c.-4732_-4731insCAGAGACCCTGCTTCCCTCCTCAGACAGGATGCT CCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCCACTTCCC TCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGA CAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCC CCCCACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCC		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					4037		chr19	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(417): Show CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATA CACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0146 a0001c0004t0002g0146	1	334	0.0030	424	c.-48 others(435): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTAT ATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4846		chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(417): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACCCCACACACACCCCACACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	338	0.0030	424	c.35 others(443): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238880387	G G	GTTAGTGT others(417): Show GTTAGTGTTAGTATTTATTAGTGTTAGTGTTGGTAATATTTATTAGCATT AGTGTTAGTGTTAGTATTTATTAGTATTAGTTACTATTTATTAGTGTCAG TGTTAGTGTTAGTGTCAGCATTAGTATTAGTGTGTTAGTATTGGTATTAG TGTTAGTGTTAGTATTTATTAGTATTAGTATTACTGTTAGTATTAGTATT AGTGTTATGTTAGTATTAGTGTTAGTATTTATTAGTATTAGTGTTACTGT TAGTCTTAGTGTTAGTGTCAGTATTAGTATTAGTGTTAGTGTCAGTATTA GTGTATTTATTAGTGTTAGCATTAGTATTAATGTTAGTATCTATTAGTAT TAGTGTTAGTGTTGGTGTTAATATTAGCATTAGTGTCAGTGTTAGTATTA GTGTTAGTGTTAGTATTTATTAGTA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	338	0.0030	424	c.36 others(443): Show c.36-29436_*36-29013dupAGTGTTAGTGTTGGTAATATTTATTA GCATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTTACTATTTATTAGT GTCAGTGTTAGTGTTAGTGTCAGCATTAGTATTAGTGTGTTAGTATTGGT ATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTATTACTGTTAGTATTA GTATTAGTGTTATGTTAGTATTAGTGTTAGTATTTATTAGTATTAGTGTT ACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGTATTAGTGTTAGTGTCAG TATTAGTGTATTTATTAGTGTTAGCATTAGTATTAATGTTAGTATCTATT AGTATTAGTGTTAGTGTTGGTGTTAATATTAGCATTAGTGTCAGTGTTAG TATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTGTTAGTATTTATT		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(417): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCGATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	408	0.0025	424	c.53+ others(439): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCGATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23						chr20	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(417): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03688.hp2 HG02056.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0128 a0001c0001t0002 a0001c0001t0128	a0001c0001t0002g0213 a0001c0001t0128g0132 a0001c0001t0002g0213 a0001c0001t0128g0132	2	232	0.0086	424	c.121 others(443): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTCCAAGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21						chr17	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(417): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATCAT ATATATCACATATATGATATATATCATATATATCACATATATGATATATA TATCATATATCACATATATGATATATATATCATATATCACATATATGATA TATATATCATATATATCATATGATATATATCATATATATCACATATATGA TATATATCATATGTGATATATATCATATATATCACATATATGATATATAT GTGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATATCATATATATCACATATATGATATATATCATATGTGATATATATCAT ATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	350	0.0029	424	c.-36 others(435): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATCATATATATCACATATATGATATATATCATATATATCA CATATATGATATATATATCATATATCACATATATGATATATATATCATAT ATCACATATATGATATATATATCATATATATCATATGATATATATCATAT ATATCACATATATGATATATATCATATGTGATATATATCATATATATCAC ATATATGATATATATGTGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATATCATATATATCACATATATGATATATATCATA TGTGATATATATCATATATCACATATATGATATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(417): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACTATATATATACATATATACACATATATACGT ATATATGTATATATACATATATACATGTATATACGTATATACATGTATAT ACGTATATATACACATATATACATGTATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAT ATACGTATATATACATATATACGTATATATATATACGTATATATACATAT ATACATGTATATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATACACATATATATACATGTATATATATGTGTATATATACAT GTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	383	0.0026	424	c.-42 others(435): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACTATATATATACATATA TACACATATATACGTATATATGTATATATACATATATACATGTATATACG TATATACATGTATATACGTATATATACACATATATACATGTATATATACG TATATATACACATATATACATGTATATATATACGTATATATACACATATA TACATGTATATATATATACGTATATATACATATATACGTATATATATATA CGTATATATACATATATACATGTATATATATATACGTATATATACATATA TACATGTATATATATATACGTATATACACATATATATACATGTATATATA TGTGTATATATACATGTATATATACATATATATACATGTG		ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding					4067		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326541	A A	ACCCTCAG others(417): Show ACCCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACACAGCCGCCCTCACC CTCAGACCCTCAAACAGGCACCCTCACCCTCACACAGGCACCCTCACCCT CAGACCCTCAAACAGGCACCCTCAGCCTCACACAGCCAACCCCATCCCTC ACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCAGCCCTCCCAAAGCC ACCCTCAGCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCC TCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTC AGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACAC AGGCACCCTCAGCCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACA GGCACCCTCAGCCCTCACACAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0127 a0001c0018t0017g0127	1	400	0.0025	424	c.-62 others(433): Show c.-625_-624insCCCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACAC AGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCTCACACAG GCACCCTCACCCTCAGACCCTCAAACAGGCACCCTCAGCCTCACACAGCC AACCCCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCAG CCCTCCCAAAGCCACCCTCAGCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGC CGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACC CTCAGCCTCACACAGGCACCCTCAGCCCTCAGCCCTCACACAGCCAACCC CATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCG		ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding					452		chr19	TogoVar
ABCC6_chr16_16144565_16228494	16172050	G G	GGGATGGA others(418): Show GGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGA TAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGG TGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGG ATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTG GGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATGGAT AAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGT GGGATGGCTAAATGAGTGGGTGGGAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0217 a0001c0005t0001g0217	1	357	0.0028	425	c.278 others(444): Show c.2787+1233_2787+1234insATCCCACCCACTCATTTAGCCATCCC ACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTC ATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTT ATCCATCCCACCCCCTCATTTATCTATCCCACCCACTCATTTATCCATCC CACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCAT CCCACTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCA CCCATTTATCCATCCCACTCACTCATTTATGCATCCCACCCATTCATTTA TCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(418): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGA TAAATGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0061 a0008c0011t0003g0062 a0008c0011t0003g0061 a0008c0011t0003g0062	2	357	0.0056	425	c.278 others(444): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCATCCCACCCACTCATTTAGCCATCCCACCC ACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCC ATCCCACCCCCTCATTTATCTATCCCACCCACTCATTTATCCATCCCACC TCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(418): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGG GTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0066 a0004c0084 a0001c0066 a0004c0084	a0001c0066t0001 a0004c0084t0001 a0001c0066t0001 a0004c0084t0001	a0001c0066t0001g0312 a0004c0084t0001g0199 a0001c0066t0001g0312 a0004c0084t0001g0199	2	357	0.0056	425	c.278 others(444): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCA TTTATCCATCCCACCCCCTCATTTATCTATCCCACCCACTCATTTATCCA TCCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCAC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(418): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGG GTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0047 a0005c0047	a0005c0047t0001 a0005c0047t0001	a0005c0047t0001g0063 a0005c0047t0001g0063	1	357	0.0028	425	c.278 others(444): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCA TTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCA TCCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCAC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(418): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCCGAGACCAAAGG CTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0002 a0002c0108t0002	a0002c0108t0002g0210 a0002c0108t0002g0210	1	276	0.0036	425	c.535 others(442): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTT GGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGT CTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTC ACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGG GGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGG CGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(418): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCTGACCC CCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCC CGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG03239.hp2 others(2): Show HG00140.hp1 HG01099.hp1 HG03239.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0104 a0003c0002 a0003c0007 others(2): Show a0002c0104 a0003c0002 a0003c0007 a0004c0015 a0004c0074	a0002c0104t0002 a0003c0002t0001 a0003c0007t0002 others(2): Show a0002c0104t0002 a0003c0002t0001 a0003c0007t0002 a0004c0015t0005 a0004c0074t0003	a0002c0104t0002g0235 a0003c0002t0001g0086 a0003c0007t0002g0082 others(2): Show a0002c0104t0002g0235 a0003c0002t0001g0086 a0003c0007t0002g0082 a0004c0015t0005g0076 a0004c0074t0003g0142	5	276	0.0181	425	c.535 others(442): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTT TGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGG TCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTC GCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277946	C C	CGGCTGAC others(418): Show CGGCTGACGCCCCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGG CTGACACCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGA CCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCC CCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCG AGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGA GACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCA AAGGCTGACCCCCCCCCGAGACCAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0105 a0002c0105	a0002c0105t0027 a0002c0105t0027	a0002c0105t0027g0221 a0002c0105t0027g0221	1	276	0.0036	425	c.535 others(442): Show c.535-4883_535-4882insTTTGGTCTCGGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTC GGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCG CGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGG GGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTC AGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCC TTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGGAGG others(418): Show AGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAGAGGGAGGAGGGGAGGGGGGGA GGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGGAGGGGGGAGGAGGGA GGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	352	0.0028	425	c.51 others(436): Show c.5172_*5173insCCCTCCCCTCCTCCCCCGTCCCCTCCTCCCCGCC CTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTTC CCCTCCTCCCCCTCCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCTCCT CCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCC CTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCCCTCCT CCCCCCTCCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCC TCCCCTCCTCCCTCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4179		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(418): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAGGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGG AGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGGGGAGGAGG GAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGAGGGAAGGGGGAG GGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGA GGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGA CGGGGGAGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	352	0.0028	425	c.51 others(436): Show c.5165_*5166insCCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCT TCCCTCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCC CCCTCCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCT CCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCCTCC TCCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCT CCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
AFAP1_chr4_7753714_7944861	7918844	T T	TGCCGGAT others(418): Show TGCCGGATGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAA GAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTC GGCCCAGGTCACCAGGAAACAGGGCTGCCGGAAGAGACACTCAGCCCAGG TCACCAAGAAACAGGGCTGCTGGATGAGACACTCGGCCCAGGTCACCCGC AAACAGGGCTGCGGATAAGACACTCGGCCCAGGTCACCAGGAAACAGGGC TGCCGGAAGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCCGGAA GAGACACTCGGCCCAGGTCACCAAGAAACAGGGCTGCCGGAAGAGACACT CGGCCCAGGTCACCAGGAAACAGGGCTGCTGGATGAGACACTCAGCCCAG GTCACCAGGAAACAGGGCTGTTGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02615.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0028 a0001c0002t0030 a0001c0004t0006 others(2): Show a0001c0002t0028 a0001c0002t0030 a0001c0004t0006 a0002c0005t0033 a0002c0005t0063	a0001c0002t0028g0016 a0001c0002t0030g0013 a0001c0004t0006g0014 others(3): Show a0001c0002t0028g0016 a0001c0002t0030g0013 a0001c0004t0006g0014 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0063g0015	6	318	0.0189	425	c.-3+ others(442): Show c.-3+20811_-3+20812insTTCCAACAGCCCTGTTTCCTGGTGACCT GGGCTGAGTGTCTCATCCAGCAGCCCTGTTTCCTGGTGACCTGGGCCGAG TGTCTCTTCCGGCAGCCCTGTTTCTTGGTGACCTGGGCCGAGTGTCTCTT CCGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCTTCCGGCAGC CCTGTTTCCTGGTGACCTGGGCCGAGTGTCTTATCCGCAGCCCTGTTTGC GGGTGACCTGGGCCGAGTGTCTCATCCAGCAGCCCTGTTTCTTGGTGACC TGGGCTGAGTGTCTCTTCCGGCAGCCCTGTTTCCTGGTGACCTGGGCCGA GTGTCTCATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCTT CCAACAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCCGGC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7918844	T T	TGCCGGAT others(418): Show TGCCGGATGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAA GAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTC GGCCCAGGTCACCAGGAAACAGGGCTGCCGGAAGAGACACTCGGCCCAGG TCACCAAGAAACAGGGCTGCTGGATGAGACACTCGGCCCAGGTCACCCGC AAACAGGGCTGCGGATAAGACACTCGGCCCAGGTCACCAGGAAACAGGGC TGCCGGAAGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCCGGAA GAGACACTCGGCCCAGGTCACCAAGAAACAGGGCTGCCGGAAGAGACACT CGGCCCAGGTCACCAGGAAACAGGGCTGCTGGATGAGACACTCAGCCCAG GTCACCAGGAAACAGGGCTGTTGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0210 a0001c0002t0013g0210	1	318	0.0031	425	c.-3+ others(442): Show c.-3+20811_-3+20812insTTCCAACAGCCCTGTTTCCTGGTGACCT GGGCTGAGTGTCTCATCCAGCAGCCCTGTTTCCTGGTGACCTGGGCCGAG TGTCTCTTCCGGCAGCCCTGTTTCTTGGTGACCTGGGCCGAGTGTCTCTT CCGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCTTCCGGCAGC CCTGTTTCCTGGTGACCTGGGCCGAGTGTCTTATCCGCAGCCCTGTTTGC GGGTGACCTGGGCCGAGTGTCTCATCCAGCAGCCCTGTTTCTTGGTGACC TGGGCCGAGTGTCTCTTCCGGCAGCCCTGTTTCCTGGTGACCTGGGCCGA GTGTCTCATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCTT CCAACAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCCGGC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17						chr4	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(418): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTACATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATACTATATATATTCTATATACAGAATATAT ATACTATATATTCTATATACTATATATTCTATATATACTATAGATATACT ATATATAGTATATCTATATATAGATATATAGATATACTATATTCTATATA CTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATAT AGAATATATATACTATATATATTCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG02809.hp1 HG02280.hp1 HG02723.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0001 a0002c0019t0001 a0001c0001t0001 a0002c0019t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0019t0001g0066 a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0019t0001g0066	3	236	0.0127	425	c.409 others(444): Show c.409+15133_409+15134insCAGAATATATATAGTATATATATTCT ATATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAG TATATAGAATATAGTATATCTATATATCTATATATAGATATACTATATAT AGTATATCTATAGTATATATAGAATATATAGTATATAGAATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATACTATATATATTCTGTATGTAGAATATATATAGTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCG GGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0039 a0039	a0039c0052 a0039c0052	a0039c0052t0001 a0039c0052t0001	a0039c0052t0001g0002 a0039c0052t0001g0002	1	326	0.0031	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCGGGGCTGGG GCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGC TGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTG GGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0049 a0049	a0049c0063 a0049c0063	a0049c0063t0001 a0049c0063t0001	a0049c0063t0001g0002 a0049c0063t0001g0002	1	326	0.0031	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(418): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAG GGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGGGGGGGAGGGGAGGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGGAGG GGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	276	0.0036	425	c.490 others(444): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGG AGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGGGGGAGGG GAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAG GGGATGGGGAGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1431769	G G	GTCTGGTC others(418): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	360	0.0028	425	c.92- others(440): Show c.92-4271_92-4270insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGA others(418): Show GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGAGG GCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGG AGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAG GGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGA GGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGG AGGGATGGAGGGAGGGAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	410	0.0024	425	c.465 others(440): Show c.465+109_465+110insGTCCCGCCCTCCCTCCCTCCATCCCTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCC GTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCTT CCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTC CCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(418): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02280.hp2 HG01261.hp2 HG02109.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0005 a0001c0003t0045 a0002c0009t0005 a0001c0003t0005 a0001c0003t0045 a0002c0009t0005	a0001c0003t0005g0016 a0001c0003t0045g0008 a0002c0009t0005g0183 a0001c0003t0005g0016 a0001c0003t0045g0008 a0002c0009t0005g0183	3	248	0.0121	425	c.50 others(436): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding					2388		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(418): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0059 a0059	a0059c0124 a0059c0124	a0059c0124t0037 a0059c0124t0037	a0059c0124t0037g0067 a0059c0124t0037g0067	1	338	0.0030	425	c.300 others(442): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602014	T T	TTCCCTCC others(418): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTC TCTCTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCTTCC TTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCT CTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0021 a0021	a0021c0051 a0021c0051	a0021c0051t0004 a0021c0051t0004	a0021c0051t0004g0068 a0021c0051t0004g0068	1	236	0.0042	425	c.482 others(442): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(418): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	410	0.0024	425	c.-22 others(442): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(418): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCC CTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGC CTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTC ACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCT CCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTCCACC CCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0215	1	322	0.0031	425	c.326 others(442): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCCGAGG GGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAG AGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24						chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(418): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACACATGCATACATATACACATGCACACAATGTACACACAT GCACGCACACATGCACACACACATGCATACATATACACATGCACACAATG TACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18964.hp1 NA18967.hp1 others(5): Show NA18747.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18990.hp2 NA19010.hp1 NA19057.hp1 NA19063.hp2	a0001 a0019 a0021 a0001 a0019 a0021	a0001c0001 a0019c0022 a0021c0036 a0001c0001 a0019c0022 a0021c0036	a0001c0001t0001 a0019c0022t0001 a0021c0036t0001 a0001c0001t0001 a0019c0022t0001 a0021c0036t0001	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0234 a0019c0022t0001g0209 a0021c0036t0001g0184	8	284	0.0282	425	c.380 others(442): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATG CATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGT ATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTG TGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTG TACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(418): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTC CCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0164 a0001c0001t0030g0164	1	256	0.0039	425	c.-45 others(446): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC C		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP107_chr1_12741200_12768699	12762156	C C	CCACCTAC others(418): Show CCACCTACCTTAGGGTCACTTTGGCACCTACTAAGCTCCTTCCTTAGTCA TCCAAGTGTCCATGTAAGGACACTGTCTTCCATCCCAACTGAAAGTCAGA GCCTGACACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGAATGACAGG AGTTGAACAAATGAGTTGAATGAATGAATGACAGGAGGAGGAGCCAGGGG GTGCAGAAAGGTTGCACCTACCTTAGGGTCACTTTGGCACCTACTAAGTT CCTTCCTTAGTCATCCAAGTGTCCATGTAAGGATGCTGTCTTCCATCCCA ACTGAAAGTCAGAGCCTGACACAGGCTAAGTCCTCTATGTTTGTTGGATG AGTGGATGACAGGAGTTGAACAAATGAGTTGAATGAATGAATGACAGGAG GAGGAGCCGGGGGTGCAGAAAGGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 NA19240.hp2 HG00642.hp1 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0023 a0003c0005t0022 a0003c0005t0023	a0003c0005t0022g0034 a0003c0005t0023g0035 a0003c0005t0022g0034 a0003c0005t0023g0035	2	336	0.0060	425	c.12 others(436): Show c.1239_*1240insCTCCTTCCTTAGTCATCCAAGTGTCCATGTAAGG ACACTGTCTTCCATCCCAACTGAAAGTCAGAGCCTGACACAGGCTAAGTC CTCTATGTTTGTTGGATGAGTGAATGACAGGAGTTGAACAAATGAGTTGA ATGAATGAATGACAGGAGGAGGAGCCAGGGGGTGCAGAAAGGTTGCACCT ACCTTAGGGTCACTTTGGCACCTACTAAGTTCCTTCCTTAGTCATCCAAG TGTCCATGTAAGGATGCTGTCTTCCATCCCAACTGAAAGTCAGAGCCTGA CACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGGATGACAGGAGTTGA ACAAATGAGTTGAATGAATGAATGACAGGAGGAGGAGCCGGGGGTGCAGA AAGGTTGCACCTACCTTAGGGTCACTTTGGCACCTACTAAG		CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	4/4				1240	INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(418): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCT CCCCTTCCCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0020 a0008c0018t0020	a0008c0018t0020g0048 a0008c0018t0020g0048	1	354	0.0028	425	c.69 others(436): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCT CCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCTT others(418): Show TTCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCT TCTTCCTCCCTCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0001 a0001c0002t0014g0001	1	354	0.0028	425	c.69 others(436): Show c.6926_*6927insTCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTTCCTCTTCTTCCTCCCTCCTCCTCCCTTCCCCCTTCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(418): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19082.hp2 NA19011.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0001 a0001c0001t0043 a0001c0003t0001	a0001c0001t0043g0076 a0001c0003t0001g0106 a0001c0001t0043g0076 a0001c0003t0001g0106	2	270	0.0074	425	c.162 others(446): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCT TCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCC T		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar

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