Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGAP19_chr10_97217179_97297637	97251784	A A	AAAGGGGA others(745): Show AAAGGGGAAGGGAAGGGGAAGGGAAGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGAAGGGGAAGGGAAGGGAAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGGAAAAGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGG AAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAG GAAGGGAAGGGAAGGGGAAGGGAAGGAAGGGGAATGGGAAAAGGAAAGGG GAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAA GGGGAAGGGAAAGGGAAGGGAAGGGAAAGGAAGGGAAAGGAAAGGGAAAG GGAAAGGGAAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAA GGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAA GGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGG AAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAG GGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAA AAGAGAGGGGAGGGGATGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGG AAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	242	0.0041	752	c.927 others(769): Show c.927+4533_927+4534insCTCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCT CCCCTCTCATCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCTTTCCCTTCCCCTCT CCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTC CCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCCTTTCCTTTTCCCATTCCCCTTC CTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCC CTTCCCTTTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTTCCCTT CCCTTCCCCTTCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCC TTCCCTTCCCCTTCCCTTCCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(745): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAG GGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAA GGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGA AGGGAAGGGAAGGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGA AGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGG GGAAGGGAAAGGGAAGGGAAGGAAGGGAAAGGGAAGGGAAAGGGAAAGGG AAGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGG GAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGG GAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGG GGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAAGGGAAGAGAGGGAGGGAG GGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGG GGAGGGGAAGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGG AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAG GGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0106 a0001c0003t0003g0106	1	242	0.0041	752	c.927 others(769): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGT CCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCCTTCACTTCCCCCTCCCCTTCCC TTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCT TCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCC TTCCCTTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCC CTTCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCC CCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTC CCTTCCCTTCCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCC CTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758809	A A	ACTCATTC others(745): Show ACTCATTCCCATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0006 a0006	a0006c0061 a0006c0061	a0006c0061t0001 a0006c0061t0001	a0006c0061t0001g0164 a0006c0061t0001g0164	1	300	0.0033	752	c.654 others(771): Show c.654+22209_654+22210insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTT AGGGTGGAGCAGGTGATGGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(745): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTT TTATTTTTTATTTATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGC TATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATG ATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATT TTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAA TCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATT GTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCA TGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAA ATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCAC AATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTAT TTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTG CCA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	358	0.0028	752	c.599 others(767): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
B3GNTL1_chr17_82937149_83056770	83022284	C C	CCCCACCT others(745): Show CCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGTGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGT GAACTCACATTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACA TTAGCTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAACTCACATGA GCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAG CACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCAC TGTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGT CCCCGCCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGCACTGTCCC CGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	266	0.0038	752	c.298 others(769): Show c.298-7766_298-7765insCCGGGGACAGTGCTAAGCTAATGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGC AGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCCGGTGCAGG TGGGCCGGGGACAGTGCTAAGCTAATGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGAC AGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGT GCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCT AAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAG CTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTC ATGTGAGTTCACACTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATG TGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
C13orf46_chr13_113948705_113979076	113974274	T T	TTGGGGCG others(745): Show TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCA GGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGC CGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGG GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02809.hp2 HG02818.hp1 others(2): Show HG01496.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0013 a0003c0003t0014g0073 a0003c0003t0014g0013 a0003c0003t0014g0073	5	414	0.0121	752	c.-27 others(761): Show c.-278_-277insGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGA AAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAG AAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAG AAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAG GGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGA AGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGA CGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		199		chr13	TogoVar
C2CD4C_chr19_400445_414147	411193	C C	CCTGCTGG others(745): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCAC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCTCGGATCCTGGGGGTCTGTCCACCGTCACTGCT GGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCT GGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCAC TGCCCCTGCTGGGCTCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCTGGATCCTGGG GGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCG TCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19082.hp2 NA19070.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	2	322	0.0062	752	c.-22 others(763): Show c.-2229_-2228insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCAGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGAGCCCAGCAGGGGCAGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCC GAGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAG ACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGAC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGATCCGGGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCC AGGATCCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2047		chr19	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(745): Show CCACACTCACACACACACACACACACTCACATACAGACACAACCACACCA CACACACACACACACATACAGACACAACCACACCACACACACACATACAC ACTCACATACAGACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACAAACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACACGCTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACACACACACACTCACATACAGACACAACCACACCA CACTCACACATACACACATACAGACACAACCACACCACACTCACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACAGACACAACCACACCA CACACACACACACACTCACATACAGACACAACCACACCACACACACACAC ACACAGACACAACCACACCACACACACACACCCAACCACACCACACTCAC ACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0228 a0003c0003t0003g0228	1	460	0.0022	752	c.193 others(769): Show c.1938+509_1938+510insTCACACACACACACACACACTCACATAC AGACACAACCACACCACACACACACACACACATACAGACACAACCACACC ACACACACACATACACACTCACATACAGACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACACAAACACACATA CAGACACAACCACACCACACACACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACGCTCACATACAGACACAACCA CACCACACTCACACACACACACTCACATACAGACACAACCACACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACACACACACACTCACATAC AGACACAACCACACCACACTCACACATACACACATACAGACACAACCACA CCACACTCACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACACACACAGACACAACCACACCACACACACACACCCA ACCACACCACACTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(745): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCA CAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCC TCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCT TCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCA CAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCC TCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCT TCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCA TGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCC TCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0032 a0032	a0032c0077 a0032c0077	a0032c0077t0009 a0032c0077t0009	a0032c0077t0009g0259 a0032c0077t0009g0259	1	284	0.0035	752	c.411 others(769): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCATGGCAGGCGAGGGGACAGGAAGGTG GGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGA CAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAG CTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAG GATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(745): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19010.hp1 HG02922.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0033 a0002c0003t0011 a0002c0002t0033 a0002c0003t0011	a0002c0002t0033g0268 a0002c0003t0011g0281 a0002c0002t0033g0268 a0002c0003t0011g0281	2	334	0.0060	752	c.-25 others(763): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(745): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	334	0.0030	752	c.-25 others(763): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(745): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	334	0.0030	752	c.-25 others(763): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(745): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0071 a0001c0009t0004g0071	1	334	0.0030	752	c.-25 others(763): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065034	A A	ATAGTATT others(745): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0018 a0018	a0018c0052 a0018c0052	a0018c0052t0011 a0018c0052t0011	a0018c0052t0011g0257 a0018c0052t0011g0257	1	334	0.0030	752	c.-25 others(763): Show c.-2518_-2517insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2169		chr11	TogoVar
CDON_chr11_125951821_126067866	126065034	A A	ATAGTATT others(745): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATT AAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0014	a0004c0006t0014g0053 a0004c0006t0014g0053	1	334	0.0030	752	c.-25 others(763): Show c.-2518_-2517insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2169		chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(745): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGAGGAGCTGGGGAGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0012 a0001c0019t0012	a0001c0019t0012g0080 a0001c0019t0012g0080	1	168	0.0060	752	c.-26 others(761): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCTCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(745): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGAGGAGCTGGGAGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	168	0.0060	752	c.-26 others(761): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCAGCTCCTCCTCCTCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(745): Show GGGAGGGGGGAGGAGGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGA GGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC AGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGG AGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	168	0.0060	752	c.-26 others(761): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCC CCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(745): Show GGGAGGGGGGGAGGAGGGGGAGCAGGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGG GGGAGCTGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	168	0.0060	752	c.-26 others(761): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCTCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCTCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGC TCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCCTGCTCCC CCTCCTCCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CLTCL1_chr22_19174473_19296719	19202402	C C	CCGCCATC others(745): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCAC CCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCA TCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCC CCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCC TTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACG GCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACC ACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGC CATCCACGGCACCTCCCGCACCACCCCTCCTTTGCCATCCACGGTACCCT CCCGCACCACCCCTCCTTCCGCCATCACGGCACCTCCCCCAAAACCCCTC CTTCCGTCATCCACGGCACCTCCCGCACCACCCCTGCTTCACCATCCACG GCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACC ACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTC ATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTC CTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0207 a0002c0001t0002g0207	1	346	0.0029	752	c.360 others(769): Show c.3601-910_3601-909insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACG GAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTG CGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTG ATGGCGGAAGGAGGGGTGGTGCGGGAGGGTACCGTGGATGGCAAAGGAGG GGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGG TGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCG GAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGT GGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGT GGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGA GGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGA GGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGG CGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTG GTGGGGGAGGTGCCGTGGATGGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
COL23A1_chr5_178232618_178595393	178585563	G G	GGGGGTAA others(745): Show GGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACGTC CCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGTTGATGCTGGGGGT AACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGT TGATGCTGGAGTAACACTCCACAGCCCTAGATGACGCTGGAGTAACACTC CACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGC TGGAGTAACACTCCACGTCCCTGGATGACGCTGGAGTAACACTCCACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGT AACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGT TGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACT CCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCG CTGGAGTAACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACA GCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGG TAACACTCCACGTCCCTGGTTGATGCTGGAGGTAACACTCCACAGCCCTG GATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGAGTAACAC TCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGC GCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG03130.hp1 others(2): Show HG02572.hp1 HG02647.hp1 HG03130.hp1 HG03516.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0003c0005t0003	a0001c0001t0003g0006 a0001c0001t0005g0009 a0001c0001t0007g0008 others(2): Show a0001c0001t0003g0006 a0001c0001t0005g0009 a0001c0001t0007g0008 a0001c0004t0001g0007 a0003c0005t0003g0010	5	236	0.0212	752	c.294 others(769): Show c.294+4340_294+4341insAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGCCATCCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCTCCAG CATCAACCAGGGACGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGA GTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAA CCAGGGCTGTGGAGTGTTACTCCAGCGCCATCCAGGGCTGTGGAGTGTTA CCCCCAGCATCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGG CTGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCA GCGTCATCCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGG AGTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCA TCCAGGGACGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTT ACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCTAGG GCTGTGGAGTGTTACTCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCA GCGTCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTG GAGTGTTACTCCAGCGTCATCCAGGGACGTGGAGTGTTACTCCAGCGTCA TCCAGGGCTGTGGAGTGTTACCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A3_chr19_9954561_10015504	9970101	G G	GGGGTCTG others(745): Show GGGGTCTGTGGGGTGAGTGGGTGCTGTGGGTGAGTGGGGTCTTTGGGGTG AGGTGGGGTGTGTGGATGAGTGGGGTCTGTGGTTGACTGAGGTCTGTGGG GTGAGTGGAATCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGTGTTCTGTG GCTGAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCT GTGGGGTGAGTGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTAAGCGGG GGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAG TGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGT GAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGTGTGGGGTCTGTGG GGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTG TGGGGTGAGTGGGGTCTGTGGGTGTGTGGGGTCTGTGGGGTGAGTGGGGT CTGTGGGGTGAGTGGGGGCTGTGGAGTGAGTGGGGTCTGTGGGGTGAGTG GGGTCTGTGGGTGTGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGAGTGA GTGGGGTCTGTGGGGTGAGTGGGGTCTGTAGGTGAGTGGGGCCTGTGGGG TGAATGAGGTCTGGGTGAGTGGGGTCTGTGGGTGACTGAGGTCTGTGGGT GAGTGGGATCTGTGGGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTGTGA AGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG02615.hp1 others(3): Show HG00558.hp2 HG02145.hp2 HG02615.hp1 NA19080.hp1 NA19240.hp1 NA20752.hp2	a0001 a0006 a0041 a0001 a0006 a0041	a0001c0033 a0001c0045 a0001c0089 others(2): Show a0001c0033 a0001c0045 a0001c0089 a0006c0069 a0041c0090	a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 others(3): Show a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 a0001c0089t0001 a0006c0069t0002 a0041c0090t0003	a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 others(3): Show a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 a0001c0089t0001g0225 a0006c0069t0002g0265 a0041c0090t0003g0126	6	412	0.0146	752	c.393 others(769): Show c.3937-180_3937-179insACTTCACAGCTCCCATTCACCCACAGAC CTCACTCACCCCACAGATCCCACTCACCCACAGACCTCAGTCACCCACAG ACCCCACTCACCCAGACCTCATTCACCCCACAGGCCCCACTCACCTACAG ACCCCACTCACCCCACAGACCCCACTCACTCCACAGCCCCCACTCACCCC ACAGACCCCACACACCCACAGACCCCACTCACCCCACAGACCCCACTCAC TCCACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGACCCCAC ACACCCACAGACCCCACTCACCCCACAGACCCCACTCACCCACAGACCCC ACTCACCCCACAGACCCCACTCACCCCACAGACCCCACACACCCACAGAC CCCACTCACCCCACAGACCCCACTCACCCACAGACCCCACTCACCCCACA GACCCCACTCACCCCACAGACCCCACTCACCTTACAGCCCCCACTCACCC CACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCCACTC ACCCCACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCC GCTTACCCCACAGACCCCACTCAGCCACAGAACACACTCACCCACAGACC CCACTCACCCACAGATTCCACTCACCCCACAGACCTCAGTCAACCACAGA CCCCACTCATCCACACACCCCACCTCACCCCAAAGACCCCACTCACCCAC AGCACCCACTCACCCCACAGACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(745): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGCAGGGATGG AGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGACGGAA GAATGGAGGGAGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGG AAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAG GGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGG AGGGAGGGAAGAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAG GGAAGAATGGAGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGG AAGAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAG GAAAGAATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGG AAGAATGCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAA GAGTGGAAGAATGGAGGGAGGGAGGGAGGGAGGCAGGCAGGGAAGAGTGG AAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0060 a0001c0006t0060	a0001c0006t0060g0103 a0001c0006t0060g0103	1	126	0.0079	752	c.415 others(773): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTGCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTTCCTCCCTCACTCGCTCCCTCCA TTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTCCATT CTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCATTCT TCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCTCTGCATTCTTCCCTC CCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCA TTCTTCCTTCCCTCCCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCGTCCCTCCCTCCATTCT TTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTGCCTCCTTCTAGC CTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(745): Show TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACACCCCCCACACCACACATCCCCCACACCCCCACACATCCCCC ACACCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCC CACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCC CACATCCCCCACACACCCCCACATCCCCCCACACCCCCCACACCCCCCAC ACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCAC ACACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACATCCCCCACACCCACACACACCCCCCACACCACAAA TCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCCACACCCCCACACACCCCCCACACCACACATC CCTCACACCACCCACACCCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCC CACACCCCCACACACCCCCCACACCACACATCCCTCACACCACCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACA CAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	116	0.0086	752	c.207 others(771): Show c.2073+1382_2073+1383insCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCACACCC CCACACATCCCCCACACCCCCACATCCCCCACACCCCCATCCCCCACATC CCCCACACCCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCA CACCCCCATCCCCCACATCCCCCACACACCCCCACATCCCCCCACACCCC CCACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCC CCCACACCCCCACACACCCCCCACATCCCCCACACCTCCCACACCCCCAC ACACCCCCCACACCACACATCCCCCACATCCCCCACACCCACACACACCC CCCACACCACAAATCCCCCACACCCCCCACATCCCCCACACCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCCACACCCCCACACACCCCC CACACCACACATCCCTCACACCACCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCACCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCC CCACACCCCCACACACCCCCCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(745): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGA GGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAG GAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAG GAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0225 a0016c0225	a0016c0225t0001 a0016c0225t0001	a0016c0225t0001g0126 a0016c0225t0001g0126	1	252	0.0040	752	c.118 others(771): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCT CCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438432	A A	AGGGAGGA others(745): Show AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGG GGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAG GGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGA GGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGA GGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0004 a0004	a0004c0191 a0004c0191	a0004c0191t0002 a0004c0191t0002	a0004c0191t0002g0223 a0004c0191t0002g0223	1	252	0.0040	752	c.118 others(771): Show c.11806-565_11806-564insTCCTCCCTCCTCCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCT CCTCCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCC TCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCTCCCTCCTCCTCCTCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89634802	C C	CCCTTCCT others(745): Show CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCTTTCCCTTCCTTCTCCTTTCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTCCCTTCCTTCTCCTTTCCCTCCTTCCCCTTCCCTTCCTTCTCC TTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0002 a0012c0005t0002	a0012c0005t0002g0083 a0012c0005t0002g0083	1	250	0.0040	752	c.105 others(769): Show c.105-1104_105-1103insTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCTTT CCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTCCTT CCCCTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(745): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTA GGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18995.hp1 NA18955.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0095 a0001c0001t0001g0057 a0001c0001t0001g0095	2	346	0.0058	752	c.-76 others(769): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCTCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCG CAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(745): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02083.hp1 HG02451.hp2 others(1): Show HG01099.hp1 HG02083.hp1 HG02451.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0259 a0001c0005t0001g0263	4	346	0.0116	752	c.-76 others(769): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCG CAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBXO47_chr17_38931432_38972403	38946697	T T	TAAAAATA others(745): Show TAAAAATATATAAAAATATATACATATATAAATATAAATATATAATATAT AAATATATAAATATATAAATATATAAATATAAATATATAAAAATATATAA ATATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATAT ATAAATATATATAAATATATAAATATATAAATATATATAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATAAATATATAAATATATATAAGTACATATAAATATATATACATAAAT ATATAAATATATAAATATATAAATATATAAATACATAATATATAAATATA AAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAA AAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATA TATATAAAAATATATAAATATATATAAAAATATATAAATATATTATATAT AAATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATATA TACAATATATAAATATAAATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATATAATATATAAATATATATAAATATATAAATACATATAAATATAT ATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	344	0.0029	752	c.617 others(769): Show c.617-1562_617-1561insTATATATATTTATATGTATTTATATATT TATATATATTTATATATTATATATATTTATATATATTTATATATTGTATA TATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTG TATATATTTATATTTATATATTGTATATATATATATTTATATATTGTATA TATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTT ATATATATTTATATATTATATATTTATATATAATATATTTATATATTTTT ATATATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTTA TATATTTTTATATATTTATATATTTTTTATATATATTTTTATATTTTTAA TATATTTTATATATTATATATATTTTATATTTATATATTATGTATTTATA TATTTATATATTTATATATTTATATATTTATGTATATATATTTATATGTA CTTATATATATTTATATATTTATATATTTATATATTTATATATTTATGTA TTTATATATTTTTATATATTTATATATTTATATATTTATATATATTTATA TATTTATATATTTATATATATTTATATATATTTATATATTTATATATTTT TATATATTTATATATTTTTATATATTTATATATTTTTATATATTTATATT TATATATTTATATATTTATATATTTATATATTATATATTTATATTTATAT ATGTATATATTTTTATATATTTTT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435254	G G	GGAAGAGA others(745): Show GGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG CAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0033 a0001c0001t0040g0033	1	96	0.0104	752	c.-16 others(773): Show c.-168+58171_-168+58172insGTGCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCTCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GTPBP6_chrX_299759_323796	322498	A A	AAAAAAAA others(745): Show AAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTA CAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGG TGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTA TCTACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 NA19070.hp1 HG01993.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0089 a0003c0004t0001g0092 a0003c0004t0001g0089 a0003c0004t0001g0092	2	155	0.0129	752	c.-37 others(763): Show c.-3712_-3711insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCA TGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCC GAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTT TCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATAT TGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAG CGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTC TTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATG CTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTT CTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3703		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(745): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGA CGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGG CAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAG CATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAA AAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCT GCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACC AGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	155	0.0065	752	c.-37 others(763): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTC TTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTC CCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCC CGGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCA GGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGG TCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCC TCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACA CCAGGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATA ATAGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAG CAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACC ACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGT CTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCT CCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGC CCGGCTAATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
HRAS_chr11_527242_540576	530838	G G	GGAGTGTG others(745): Show GGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCC TGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAG TGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAG GGGGAGTGTGGCGTCGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTG GCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGG AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTG GACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGG GGAGTGTGGCGTCCCCTGGAGAGAAGGGGGTGTGTGGCGTCCCCTGGAGA GAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCC TGGACAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGC GTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0024 a0001c0002t0009g0024	1	397	0.0025	752	c.16 others(763): Show c.1689_*1690insGACGCCACACTCCCCCTTCTGTCCAGGGGACGCC ACACTGGCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGG GACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACACCCCCTTCTCT CCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCC TTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACAC TCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACG CCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCAC ACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTGGCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTG GCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGG GACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGT CCAGGGGACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1403		chr11	TogoVar
IL3RA_chrX_1331785_1387689	1361016	C C	CCTCTCTC others(745): Show CCTCTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTT CCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCC CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCC CCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	115	0.0087	752	c.759 others(769): Show c.759+2133_759+2134insCTCTCTCTCCCTTCCCCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT GTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(745): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCC TCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCACTCTCCCTC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	752	c.-27 others(763): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(745): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTG ATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGT GATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGG TGGGGGTGATGACGATGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGG TGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGG GTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGT GGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0090 a0002c0003t0001g0090	1	186	0.0054	752	c.956 others(769): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCA TCACCCCCACCATCATCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCGCCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCCCACCGTCAT TACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACCA TCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCACC CCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(745): Show GCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACAATTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCC ACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0282 a0001c0009t0052g0282	1	290	0.0035	752	c.129 others(771): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGC CCACAATTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCGC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC GCGCTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTTACACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC ACTTACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACGCCCACACTTACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(745): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCC CTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTC CCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCC CTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCT CCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTT CCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCC CAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0005 a0005	a0005c0079 a0005c0079	a0005c0079t0001 a0005c0079t0001	a0005c0079t0001g0125 a0005c0079t0001g0125	1	278	0.0036	752	c.115 others(769): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCTTCCCCTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCT CCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(745): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCT CCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCACCCTCCCCTCCCCCTCCCC TCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCC TCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCT CCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCT CCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCC TTCCTCTCCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCC CCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCA CCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0248 a0001c0008t0001g0248	1	278	0.0036	752	c.115 others(769): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTC CCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCACCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCC CCTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCC CTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTC CCCGCCCCTCCCCTCCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCT TCCCTCCCCCTCCCTTCCTCTCCCCCTCCCCCCTCTCCTCCCCCTCCCTT CCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(745): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCTCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCT CCCCTCCCCTCCCTCTCTCCCCTCCCTCCCCCTCTCCCCTCCCCTCCCCT CCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCT CCC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	140	0.0071	752	c.114 others(771): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCTCCCCTCCCCTCTCCCCTCCCGTC TCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCTCTCTCCCCTCCCTCC CCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCC CTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCC TCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATTTTTAT others(745): Show ATTTTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTA TATATATTTTTATATATATAAAATCATATTTTATATATATTTTATATATT ATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	330	0.0030	752	c.-5+ others(767): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATATAATAT ATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAATATGA TTTTATATATATAAAAATATATATAAATATATATAAAATATGATTTTATA TATATAAAAATATATATAAAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(745): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAGATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01081.hp2 others(7): Show HG00323.hp1 HG01069.hp1 HG01081.hp2 HG01168.hp2 HG01516.hp2 HG01978.hp1 HG02486.hp2 HG02723.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0002g0231 others(7): Show a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0004g0237 a0001c0001t0011g0239 a0001c0001t0013g0240	10	330	0.0303	752	c.-5+ others(767): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATATATATAT AAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAATCTTA TTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAA TATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAG TAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATA TAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAA GATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTGA others(745): Show ATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATTTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAA TCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAGATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	330	0.0030	752	c.-5+ others(767): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATATATATAT AAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAATCTTA TTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAA TATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATA TATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAG ATTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA TATAAAAAATATATATCAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCOR2_chr12_124319415_124572612	124438892	G G	GACAGAGA others(745): Show GACAGAGAGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGA CAGAGGGAGACACAGAGACCCAGAGAGAGGGAGACGGAGACCCAGAGACA GAGGGAGACACAGACCCGGAGACAGAGGGAGACAGAGACCCAGAGAGAGA GGGAGACAGAGACCCGGAGACAGAGGGAGACAGAGACCCAGAGACAGAGG GAGACAGAGACCCAGAGAGAAGGAGACAGAGACCCAGAGAGAGAGAGAGA GAGATCCAGAGAGAGGGAGATGGAGACCCAGAGAGAGGGAGAAAGAAACC CAGAGACAGAGAGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCA GAGACAGAGGGAGACACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGA GACAGGAGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCGGAGAC AGAGACCCAGAGGCAGAGGGAGACAGAGACCCTGAGACAGAGGGAGACAG AGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACACAG AGACCCAGAGAGAGGGAGACAGAGACCCAGAGACAGGAGAGACAGAGACC CAGAGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCT GAGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGA GACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACACAGAGACCCAGA GAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02083.hp2 NA18941.hp1 others(5): Show HG02004.hp1 HG02083.hp2 NA18941.hp1 NA18948.hp1 NA18966.hp1 NA18985.hp2 NA19067.hp2 NA19070.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0010 a0011 a0035 a0038 a0045	a0001c0092 a0004c0007 a0005c0081 others(5): Show a0001c0092 a0004c0007 a0005c0081 a0010c0094 a0011c0135 a0035c0101 a0038c0136 a0045c0148	a0001c0092t0004 a0004c0007t0026 a0005c0081t0024 others(5): Show a0001c0092t0004 a0004c0007t0026 a0005c0081t0024 a0010c0094t0004 a0011c0135t0002 a0035c0101t0004 a0038c0136t0004 a0045c0148t0050	a0001c0092t0004g0052 a0004c0007t0026g0130 a0005c0081t0024g0188 others(5): Show a0001c0092t0004g0052 a0004c0007t0026g0130 a0005c0081t0024g0188 a0010c0094t0004g0053 a0011c0135t0002g0083 a0035c0101t0004g0072 a0038c0136t0004g0009 a0045c0148t0050g0082	8	234	0.0342	752	c.816 others(767): Show c.816-897_816-896insGTCTCTGGGTCTCTGTGTCTCCCTCTGTCT CTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCAGGGTCTCTGTCTCCCTCTGTCTCTGG GTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCTCCTGTCTCTGGGTC TCTGTCTCCCTCTCTCTGGGTCTCTGTGTCTCCCTCTGTCTCTGGGTCTC TGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCTCAGGGTCTCTG TCTCCCTCTGCCTCTGGGTCTCTGTCTCCGGGTCTCTGTCTCCCTCTGTC TCTGGGTCTCTGTCTCTCCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGG GTCTCTGTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGG GTCTCTGTCTCTCTCTGTCTCTGGGTTTCTTTCTCCCTCTCTCTGGGTCT CCATCTCCCTCTCTCTGGATCTCTCTCTCTCTCTCTCTGGGTCTCTGTCT CCTTCTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCT CTGTCTCCGGGTCTCTGTCTCCCTCTCTCTCTGGGTCTCTGTCTCCCTCT GTCTCCGGGTCTGTGTCTCCCTCTGTCTCTGGGTCTCCGTCTCCCTCTCT CTGGGTCTCTGTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCT CTGGGTCTCTGTCTCTCTCTGT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(745): Show TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT CCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	242	0.0041	752	c.360 others(771): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGG AGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(745): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATATGTATATATATACAT ATATATGCATATATGTGTATACATATACATATATATGCATATATGTGTAT ATATACACATATATGTGTGTGTATATATATGTGTGTGTATATATACACAT ATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGT GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	456	0.0022	752	c.31 others(763): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATA TGTATATATATACATATATATGCATATATGTGTATACATATACATATATA TGCATATATGTGTATATATACACATATATGTGTGTGTATATATATGTGTG TGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATA TACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(745): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTGT GTATATATACATATACATATATATGCATATATGTGTATATATATACATAT ATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATAT ATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACAT ATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGT GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	456	0.0022	752	c.31 others(763): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACACATATACATA TATATGCATATGTGTGTATATATACATATACATATATATGCATATATGTG TATATATATACATATATATGCATATATGTGTATACATATACATATATATG CATATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTG TGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATA TACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PCSK6_chr15_101298933_101494707	101312139	C C	CCCCTCAC others(745): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCCCACAGCCCACCCCATCGTCA CCCCCCACAGCCCACCCCATCGTCACCCCCCACAGCCCACCCCATCGTCA CCCCCCACAGCCCACCCCATCGTCACCCCCCACAGCCCACCCCATCGTCA CCCCCCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCCCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCATC ACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0016 a0002c0008t0001g0016	1	336	0.0030	752	c.269 others(771): Show c.2699+1236_2699+1237insTGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGGGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGGGGGGTGACGATGGGGTGGGCTGTGGGG GGTGACGATGGGGTGGGCTGTGGGGGGTGACGATGGGGTGGGCTGTGGGG GGTGACGATGGGGTGGGCTGTGGGGGGTGACGATGGGGTGGGCTGTGGGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(745): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	216	0.0046	752	c.106 others(769): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCATCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar

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