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
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(479): Show TGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTA GCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0216 a0002c0001t0001g0216	1	320	0.0031	486	c.-10 others(503): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGG CTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTAT GTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT GGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCC		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10						chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(479): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTGT CTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTG TATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0223	1	320	0.0031	486	c.-10 others(503): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTCT GCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT GGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCC		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10						chr16	TogoVar
PKP3_chr11_389209_409908	399371	C C	CTCCACCT others(479): Show CTCCACCTGCCCACCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCAC CTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCTCCACCTGCC CACCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCACCTGCCCCCCTA CTCCTCCTCCCCCCCTCTGCCTTACCCCCTCCACCTGCCCGCCATCTGCC CCCCTTCTCCACCTGCCCCCTCCTCCACCTGCCCCCTCTGCCTGTCCCCT ACTCCTCCTGTCCTCCCTCTGTGTCCCCCCCACCTGGCCCCCCTCCTCCA CCTGCCCCCTCTGCCTATCCCCCACCTGTCCCCCCCTCCACCTGTCCCCT CTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCTCC ACCTGCCCACCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCACCTGC CCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	137	0.0073	486	c.127 others(503): Show c.1273+175_1273+176insTCCACCTGCCCACCATCTGCCCCCCTTC TCCACCTGCCCCCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCT GCCTTACCCCCTCCACCTGCCCACCATCTGCCCCCCTTCTCCACCTGCCC CCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCC TCCACCTGCCCGCCATCTGCCCCCCTTCTCCACCTGCCCCCTCCTCCACC TGCCCCCTCTGCCTGTCCCCTACTCCTCCTGTCCTCCCTCTGTGTCCCCC CCACCTGGCCCCCCTCCTCCACCTGCCCCCTCTGCCTATCCCCCACCTGT CCCCCCCTCCACCTGTCCCCTCTGCCACCTGCCCCCCTACTCCTCCTCCC CCCCTCTGCCTTACCCCCTCCACCTGCCCACCATCTGCCCCCCTTCTCCA CCTGCCCCCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCT TACCCCCT		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	5/12						chr11	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTCCC others(479): Show CCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTT CCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCC TTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCTTCCCCT TCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCCTCCCTTCCCTT TCCCTTCCTTTTCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCT TCCCCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCTTCCCTTTACCTTCCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTC CTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCC TTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCC TTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0080 a0001c0008t0080	a0001c0008t0080g0059 a0001c0008t0080g0059	1	60	0.0167	486	c.206 others(503): Show c.206-6592_206-6591insTTCCCCTTCACTTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCC CTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCC CCTTCCCTTTCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCC TTTTCCCCTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCCCTTCCCCTTCC CCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCCCTTC CCCTTCCCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTT CCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTC CCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTC CCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTT CCATTTCC		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(479): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	166	0.0060	486	c.335 others(505): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAG TTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492425	C C	CCCGGGAG others(479): Show CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGT CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCC GGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0135	1	248	0.0040	486	c.126 others(505): Show c.1265+3427_1265+3428insGGGAGACCCGAGGCCGTCCAGAGCCC TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCC GAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(479): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCATCCCCACCAGGCCCAC CATCCCCACCATCCCCACCAGGCCCACCATCCCCATCAGGCCCACCATCC CCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACC AGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCATCCC CATCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCA GGCCCACCATCCCCATCAGGCCCACCATCCCCACCAGGCCCACCATCCCC ACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCATCCCCACCAG GCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	119	0.0084	486	c.397 others(499): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGATGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCC TGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGCCTGGTGGGGATGGTG GGCCTGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGGATGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGG GGATGGTGGGCCTGGTGGGGATGGTGGGCCTGATGGGGATGGTGGGCCTG GTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGG CCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGG TGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(479): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCTCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCT CACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCA GGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCC ACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAG GCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	119	0.0084	486	c.397 others(499): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCC TGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG GGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGG TGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RADIL_chr7_4792055_4888716	4802760	G G	GGGGCACG others(479): Show GGGGCACGCTGGCTGGGGGGCCCCCTCCCCAGACACCTCGGGTCATGCTG GCTGGACCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGACCCCCTCC CCGGGCACCTCGGGGCACTCTGGCTGGGGGGCCCCCTCCCCGGGCACCTC GGGGAATGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCT GGGGGGCCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGCCCCCTCC CCGGGCACCTCAGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTC GGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCT GGGGGGCCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGTCCCCTCC CCGGGCACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTC GGGGCACACTGGCTGGGCCCCCTCCCCGGGCACCTCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02015.hp2 HG02040.hp1 others(5): Show HG01106.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG03704.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0058	a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 others(5): Show a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0280 a0001c0001t0002g0006 a0001c0006t0001g0251 a0002c0002t0058g0255	8	286	0.0280	486	c.249 others(503): Show c.2499+300_2500-766dupTGAGGTGCCCGGGGAGGGGGCCCAGCCA GTGTGCCCCGAGGTACCCGGGGAGGGGGCCCCCCAGCCAGCGTGCCCCGA GGTGCCCGGGGAGGGGACCCAGCCAGAGTGCCCCGAGGTACCCGGGGAGG GGGCCCCCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGGACCCAGCCA GCGTGCCCCGAGGTACCCGGGGAGGGGGCCCCCCAGCCAGCGTGCCCTGA GGTGCCCGGGGAGGGGGCCCAGCCAGAGTGCCCCGAGGTACCCGGGGAGG GGGCCCCCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGGACCCAGCCA GCATTCCCCGAGGTGCCCGGGGAGGGGGCCCCCCAGCCAGAGTGCCCCGA GGTGCCCGGGGAGGGGGTCCAGCCAGCATTCCCCGAGGTGCCCGGGGAGG GGGTCCAGCCAGCATGACCCGAGGTGTCTGGGGAGGGGGCCCCCCAGCCA GCGTGCCC		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14						chr7	TogoVar
RADIL_chr7_4792055_4888716	4802969	C C	CCTCCCCG others(479): Show CCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGCCCCCTCCCCGGGCACC TCAGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCACGC TGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGCCC CCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGTCCCCTCCCCGGGCACC TCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCACAC TGGCTGGGCCCCCTCCCCGGGCACCTCAGGGCACGCTGGCTGGGGGGCCC CCTCCCCAGACACCTCGGGTCATGCTGGCTGGACCCCCTCCCCGGGCACC TCGGGGAATGCTGGCTGGACCCCCTCCCCGGGCACCTCGGGGCACTCTGG CTGGGGGGCCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGGTCCCCT CCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGCCCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	290	0.0034	486	c.249 others(503): Show c.2499+576_2499+577insAGGGCCCCCCAGCCAGCGTGCCCCGAGG TGCCCGGGGAGGGGACCCAGCCAGCATTCCCCGAGGTGCCCGGGGAGGGG GCCCCCCAGCCAGAGTGCCCCGAGGTGCCCGGGGAGGGGGTCCAGCCAGC ATTCCCCGAGGTGCCCGGGGAGGGGGTCCAGCCAGCATGACCCGAGGTGT CTGGGGAGGGGGCCCCCCAGCCAGCGTGCCCTGAGGTGCCCGGGGAGGGG GCCCAGCCAGTGTGCCCCGAGGTACCCGGGGAGGGGGCCCCCCAGCCAGC GTGCCCCGAGGTGCCCGGGGAGGGGACCCAGCCAGAGTGCCCCGAGGTAC CCGGGGAGGGGGCCCCCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGG ACCCAGCCAGCGTGCCCCGAGGTACCCGGGGAGGGGGCCCCCCAGCCAGC GTGCCCTGAGGTGCCCGGGGAGGGGGCCCAGCCAGAGTGCCCCGAGGTAC CCGGGGAG		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14						chr7	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(479): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCA CTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAA GCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTT AAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATC TCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	41	0.0244	486	c.348 others(505): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGC TTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAG TGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTA AAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCT CTTAAAAGTG		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RFX2_chr19_5988164_6115500	6070038	G G	GGAATGGG others(479): Show GGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGG ATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATG GGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAA TCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGATGT GGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTGGA TGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGTGG GATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGTGGATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03195.hp1 others(1): Show HG02109.hp1 HG02572.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0261 a0001c0003t0004g0267 a0001c0003t0004g0268 others(1): Show a0001c0003t0004g0261 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0004g0274	4	265	0.0151	486	c.-8- others(503): Show c.-8-22535_-8-22534insTATCCACATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCC CATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCTCATCCCAC CCCATCCACATCCCATCCTACCCCATCCACATCCCTTTCCATCCCATCCA CATCTCATCCCACCCCATCCACATCCCGTTCCACCCCATCCACATCCCAT CACATCCCATCCACATCCCATTCCATCCCATCCACATCCCATCCCATCCC ACCCCATCCACATCCCATCCCACCCCATTCACATCCCATTCCACCCCATT CACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCCACATCCC ATTCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCACC CCATCATATCCCATTCCACCCCATTCACATCCGATTCTATCCCATCCACA TCCCATTC		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RIPOR2_chr6_24799284_24940960	24927248	C C	CCACCACC others(479): Show CCACCACCACCATCACTACCACCAGCACCACTACAACTACAATCACCACC ATCACCATCACTACCACCAGCACCACTACAACTACAATCACCATCACCAC CACCACCACAACTACAATCACCACCACCACCACTACAACTACAGTTACCA CCACCATCACCACCACCACCACCACAACTACAATCACCACCACCACCACT ACCACCAGCACCACCACAACTACAATCACCACCACCATCACCACCACCAC AACTACAATCACCACCACCACCATCACTACCACCAGCACCACTACAACTA CAATCACCACCATCACCATCACTACCACCAGCACCACTACAACTACAATC ACCATCACCACCACCACCACAACTACAATCACCACCACCACCACTACAAC TACAGTTACCACCACCATCACCACCACCACCACCACAACTACAATCACCA CCACCACCACTACCACCAGCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0098 a0001c0003t0002g0098	1	324	0.0031	486	c.61+ others(501): Show c.61+8589_61+8590insATTGTAGTTGTGGTGGTGCTGGTGGTAGTG GTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATGGTGGTGGT AACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGG TGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGTG GTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGGTGGTGGTGAT TGTAGTTGTGGTGGTGGTGATGGTGGTGGTGATTGTAGTTGTGGTGGTGC TGGTGGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGT GGTGGTGGTGGTGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGA TGGTGATGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTG GTGGTG		RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21						chr6	TogoVar
RNF17_chr13_24759169_24884921	24881881	G G	GATATATA others(479): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAATCT ATATAGATGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0250 a0015c0022t0001g0250	1	410	0.0024	486	c.21 others(497): Show c.2155_*2156insATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTAT ATAGATATATAATCTATATAGATGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1961		chr13	TogoVar
RPH3AL_chr17_207389_357807	353520	T T	TCAAACTG others(479): Show TCAAACTGGGTTCCAAGGAGCCGGGGTGTGGAGCCCCTCTTCAGGACTGT GCAGGTGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAA ACTGGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACA GGCGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAAACT GGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACAGGC GAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAAACTGGG TTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACCGTGCAAGCAGA AGCAGGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAACAAACTGGGT TCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACAGGCGAAG CAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	69	0.0145	486	c.-10 others(497): Show c.-1022_-1021insTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCC CTGCTTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTT GGAACCCAGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCCT GCTTCTGCTTGCACGGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTTG GAACCCAGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCTGC TTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTTGGAA CCCAGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCTGCTTC GCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTTGGAACCC AGTTTGTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCCCTGCTTCACC TGCACAGTCCTGAAGAGGGGCTCCACACCCCGGCTCCTTGGAACCCAGTT TG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					714		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(479): Show GAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACT AGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGT TACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCC TGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACA GCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAG CACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTA CTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGT CCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCA CAGCCCTGGCTACTAGCACTGTCCTGGTTGCTAGCAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0059 a0001c0084t0059	a0001c0084t0059g0165 a0001c0084t0059g0165	1	120	0.0083	486	c.655 others(505): Show c.655-10076_655-10075insCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTGCTAGC ACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(479): Show CCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0161 a0001c0090t0001g0161	1	170	0.0059	486	c.655 others(505): Show c.655-10076_655-10075insCTACTAGCAGAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCAC TGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744433	C C	CCCTGGTT others(479): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0089 a0001c0013t0089	a0001c0013t0089g0046 a0001c0013t0089g0046	1	166	0.0060	486	c.655 others(503): Show c.655-9572_655-9571insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	T T	TTGCTAGC others(479): Show TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03239.hp1 NA19043.hp1 HG00621.hp1 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0083 a0001c0004 a0001c0006 a0001c0083	a0001c0004t0001 a0001c0006t0076 a0001c0083t0028 a0001c0004t0001 a0001c0006t0076 a0001c0083t0028	a0001c0004t0001g0152 a0001c0006t0076g0183 a0001c0083t0028g0158 a0001c0004t0001g0152 a0001c0006t0076g0183 a0001c0083t0028g0158	3	152	0.0197	486	c.655 others(503): Show c.655-9390_655-9389insGCTAGCACTGTCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659234	G G	GCCCCCTC others(479): Show GCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCC CTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGG CCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGG GTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCC CTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCCTGGTTCGGGGCCCCCTCG GCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTG GGCCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCCTTCCT GCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGGTTCTGGGGCCCC CTCGGCCTTCTTGTCCTGGTTCTGGCCCCCTCGGCCTTCTTGCCCTGGTT CTGGGCCCCCCTCTGCCTTCTTGCCCTGGTTCTGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19067.hp1 NA19067.hp1	a0068 a0068	a0068c0122 a0068c0122	a0068c0122t0001 a0068c0122t0001	a0068c0122t0001g0108 a0068c0122t0001g0108	1	348	0.0029	486	c.127 others(495): Show c.1273_1274insGCCCAGAACCAGGGCAAGAAGGCAGAGGGGGGCCCA GAACCAGGGCAAGAAGGCCGAGGGGGCCAGAACCAGGACAAGAAGGCCGA GGGGGCCCCAGAACCCAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGG CAGGAAGGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGGC CCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGG CCGAGGGGGCCCCGAACCAGGGGCAAGAAGGCCGAGGGGACCCCGAACCA GGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGA CCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAG GCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCA GGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGG	p.Gly others(499): Show p.Gly424_Ala425insGlyProGluProGlyGlnGluGlyArgGlyGl yProArgThrArgAlaArgArgProArgGlyProGluProGlyGlnGluG lyArgGlyGlyProArgThrGlnGlyArgLysAlaGluGlyAlaGlnAsn GlnGlyArgLysGlyArgGlyGlyProGluProGlyGlnGluGlyArgGl yGlyProArgThrArgAlaArgArgProArgGlyProArgThrArgAlaA rgArgProArgGlyProArgThrArgGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGly	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1586/5049	1273/4233	425/1410			chr20	TogoVar
SARDH_chr9_133658560_133743352	133669042	T T	TCCCCTCA others(479): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCT TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCTTCCCTCTCCCTC ACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCAC CCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTC CATCTCCCTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0108 a0002c0015t0001g0108	1	244	0.0041	486	c.249 others(505): Show c.2495+1541_2495+1542insGAGAGGGAGGGTGAGGGAGAGGGAGG GTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGG TGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAG GGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGG GAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGG AGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGA GGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGG GAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGA GGGTGAGGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(479): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACTGTATTTGTTTATAAATACTGTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0184 a0001c0001t0008g0184	1	311	0.0032	486	c.632 others(503): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTTGTTTATAAATACTGTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430122	A A	AGTATTTG others(479): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACAGTATTTGTTTA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTAT AAATACTGTATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	310	0.0032	486	c.632 others(503): Show c.632+8168_632+8169insGTTTATAAATACAGTATTTGTTTATAAA TACAGTATTTGTTTATACTGTATTTGTTTATAAATACTGTATTTGTTTAT AAATACTGTATTTATAAATACTGTATTTGTTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(479): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19081.hp1 HG00609.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0257 a0001c0001t0001g0226 a0001c0001t0001g0257	2	256	0.0078	486	c.632 others(503): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C1_chr11_188078_199575	196197	G G	GGGGACCT others(479): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCT GGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGA GCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	328	0.0030	486	c.17 others(497): Show c.1747_*1748insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGG TGAGCGGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCC TTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGG GAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GA		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1623		chr11	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(479): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGT TAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0269 a0001c0003t0004g0269	1	259	0.0039	486	c.101 others(505): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGG GTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGA TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432065	A A	ATAGGGTG others(479): Show ATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	358	0.0028	486	c.101 others(503): Show c.1014-902_1014-901insTAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGG AGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGT TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGT		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9						chr1	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(479): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAG CCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18951.hp2 NA19089.hp2 HG00621.hp1 NA18951.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0201 a0006c0007t0001g0195 a0006c0007t0001g0198 a0001c0001t0001g0201 a0006c0007t0001g0195 a0006c0007t0001g0198	3	251	0.0120	486	c.173 others(505): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC AGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCA TCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGG AGGTGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(479): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAG AAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAG CGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	194	0.0052	486	c.173 others(505): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC AGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCA TCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGG AGATGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(479): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATGTTTTATATGTATATATATACATAGAAAATATATATACA TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATATAC ATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATA TATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACATA TGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	181	0.0055	486	c.626 others(503): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGA AAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATATAT GTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATATGT TTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATACATAGAAAATATATATACATGTTTTATATGTATATATACATAGA AAATATAT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(479): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGG GGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAG GGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCG GGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGA GGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	25	0.0400	486	c.914 others(505): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCC CCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCC CCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCT GCCGCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(479): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGA AAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGG ACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGC CCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGC AGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAG GCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTG CTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACT CTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTC CTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	238	0.0042	486	c.98 others(495): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTC AGTTCTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACA CTAAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTC CCAGACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTC ACATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTA CAGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGA TATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGG ACTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTC CAGAAGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT		SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding					336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(479): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGA TCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCA TTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCAGC CCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGC AGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAG GCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTG CTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACT CTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTC CTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	238	0.0042	486	c.98 others(495): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTT CTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAA GTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAG ACCTGCAGCCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTC ACATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTA CAGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGA TATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGG ACTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTC CAGAAGCAGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT		SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding					336		chr9	TogoVar
SLC4A11_chr20_3222422_3244190	3228014	C C	CCCTCCTG others(479): Show CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCT GGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCTCTA GGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGCCCGCCCACTCTCCACC TCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGCCCGCCCACTCTC CACCTCTAGGCTGGGCTCCTCCTGCCCACCACCCACCCCAGCCCGCCCAC TCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGC CCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGC CCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCC CAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCACCACCC ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	442	0.0023	486	c.255 others(503): Show c.2559-159_2559-158insAGCCCAGCCTAGAGGTGGAGAGTGGGCG GGCTGGGGTGGGTGGTGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTG GGCGGGCTGGGGTGGGTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAG AGTGGGCGGGCTGGGGTGGGTGGCGGGCAGGAGGAGCCCAGCCTAGAGGT GGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAG AGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGAGCCCAGC CTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGCGGGCAGGAGGAGCC CAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGCGGGCAGGAGG AGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAG GAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGG GCAGGAGG		SLC4A11	ENSG00000088836.14	transcript	ENST00000642402.1	protein_coding	19/19						chr20	TogoVar
SLIT3_chr5_168656740_169306139	168755389	A A	ATTTCTTT others(479): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTC TCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTCTTTCTTTCTC TCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0023 a0002c0008t0002g0023	1	10	0.1000	486	c.168 others(505): Show c.1686-1383_1686-1382insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGA AGAAAGAAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAGAGAAAGAAAGAG AGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGAAGGA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35						chr5	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(479): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	283	0.0035	486	c.909 others(501): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384421	A A	AGAGGGAG others(479): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	312	0.0032	486	c.909 others(501): Show c.909+887_909+888insCCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGAGAAC others(479): Show GGGAGAACGGGGTGGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGAGAACGGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGAG CGGGGTGGGGGAACGGGGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGCG GGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGG GTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGT GGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGG GAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGAGA ACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG03041.hp1 others(1): Show HG02886.hp2 HG02895.hp2 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0257 a0001c0001t0001g0263 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0325	4	7	0.5714	486	c.157 others(505): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCTCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCCCCGACCCCGCTCTCTCCCCGTT CCCCCACCCCGCTCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCT CCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACCCCG TTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCAC CCCGTTCTCC		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20						chr20	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(479): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAG AGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGG GGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAG CCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGA CTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0272 a0004c0003t0001g0272	1	219	0.0046	486	c.395 others(503): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGGTGAGCTG GGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAG GGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAC ATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGC TGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGT CATGGAGG		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TECTA_chr11_121096243_121196490	121185350	A A	ATGCTTAA others(479): Show ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAAT GAGTGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0007 a0007	a0007c0062 a0007c0062	a0007c0062t0002 a0007c0062t0002	a0007c0062t0002g0018 a0007c0062t0002g0018	1	343	0.0029	486	c.600 others(505): Show c.6000-2450_6000-2449insGAATGCTTAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAA AGCAGATGTT		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CATCAGAC others(479): Show CATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	186	0.0054	486	c.228 others(503): Show c.2287-506_2287-505insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGAT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CCACACAT others(479): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCAC AACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0212 a0001c0006t0001g0212	1	186	0.0054	486	c.228 others(503): Show c.2287-506_2287-505insTGGTGACTGTGGATGGTGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129088031	G G	GGGCGTCC others(479): Show GGGCGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGACGTCCTCCATGACCGGGCGTCCTCC ATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCC TCCATGACCGGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGT GTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGG GTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACC GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGA CCGGGTGTCCTCTATGACCGGGGTGTCCTCCATGACC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	89	0.0112	486	c.144 others(505): Show c.1444-3330_1444-3329insGGTCATGGAGGACACCCCGGTCATAG AGGACACCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATG GAGGACACCCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGGTC ATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGG TCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCC GGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACGC CCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGAC ATCCCGGTCATGGAGGACGCCCGGTCATGGAGGACGTCCGGTCATGGAGG ACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGA GGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCAT GGAGGACGCC		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(479): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGGTGAGGGAGTGAGTGAGGGGGTGAGGGGGT GAGTGAGGGGGTGAGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGTGTGAGTGAGGGGGTGAGGGGGT GAGGGTGAGTGAGGGGGTGGGTGAGGGGGGGGGTGAGTGAGGAGGTGAGG GGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGAGTGAGGG AGTAGTGAGAGGGTGAGTGAGGGGGTGAGTGAGGAGGTGAGGGGTGAGTG AGGAGGTGAGGGGGTGAGTGAGGGGTGAGGGGGTGAGGGAGTGAGTGAGG GGGTGGGTGAGGAGGTGAGGGGGTGACGTGAGGAGGTGAGGGGGTGAGTG AGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0028 a0002c0005t0001g0028	1	360	0.0028	486	c.728 others(501): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACGTCACCCCCTCACCTCCTCA CCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCTCACCTCCTCACTCACCCCCTCACTCACCCTCT CACTACTCCCTCACTCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCA CTCACCCCCTCACCTCCTCACTCACCCCCCCCCTCACCCACCCCCTCACT CACCCTCACCCCCTCACCCCCTCACTCACACCCCTCACCTCCTCACTCAC CCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCTCACCCC CTCACTCACCCCCTCACCCCCTCACTCACTCCCTCACCCTCCTCACTCAC CCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCT CCTCAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(479): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCAC CTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0065 a0005c0028t0002g0065	1	10	0.1000	486	c.-25 others(505): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCC TATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC TCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTC TCCCCTCCCC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(479): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATTATATTATATTATATAGTATATTATATT ATATTATATAGTATATTATATTATATTATATAGTATATAATATAGTATAT TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTA TATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATA ATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATAT AGTATATAATATAGTATATTATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG00741.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	81	0.0247	486	c.44- others(503): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATACTATATTATATACTA TATAATATAATATACTATATTATATACTATATAATATAATATAATATACT ATATAATATAATATAATATACTATATAATATAATATAATATACTATATAA TATAATATATATTATATACTATATAATATAATATACTATATTATATACTA TATAATAT		TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8						chr7	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(479): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATACATAAAAATT ATATATATATTATATATACATAAAAATTATATATATATTATATATACATA AAAATTATATATATATAATATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	486	c.29 others(497): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATACATAAAAATTATATATATATTATATATACATAAAAATTATATATA TATTATATATACATAAAAATTATATATATATAATATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(479): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATACATAAAAATT ATATATATATTATATATACATAAAAATTATATATATATTATATATATATA AAAATTATATATATATAATATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18953.hp2 NA18948.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	116	0.0172	486	c.29 others(497): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATACATAAAAATTATATATATATTATATATACATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATAATATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(479): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	486	c.29 others(497): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(479): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	486	c.29 others(497): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2316		chr11	TogoVar

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