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
KCTD8_chr4_44168903_44453809	44179714	T T	TAGGGATC others(792): Show TAGGGATCACTAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCCCAGAGTGTGAT ATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGT CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTGACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18942.hp2 NA18949.hp2 others(1): Show HG02056.hp1 NA18942.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0190 a0001c0001t0001g0193	4	291	0.0137	799	c.962 others(816): Show c.962-4465_962-4464insGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTCAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGACTATTAGTGATCCCT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KIF25_chr6_167992671_168050091	167997284	G G	GGGGGCGG others(792): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	354	0.0028	799	c.-21 others(810): Show c.-2185_-2184insGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAGTCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		386		chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(792): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAG AAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAA CAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGA GGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAG GAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGA GGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGG AGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAA AGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG02897.hp1 HG01192.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0056 a0002c0003 a0002c0056	a0002c0003t0003 a0002c0056t0003 a0002c0003t0003 a0002c0056t0003	a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0056t0003g0078 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0056t0003g0078	3	10	0.3000	799	c.507 others(818): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA GGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGA AGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAAGGAAG GAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGA GGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGG AGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGG GAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAA GGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGA AGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGA GGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(792): Show ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATATTTATATATATATTAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATTATATA TATTTATATATATTTATATATATATTTATATATGTATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	176	0.0057	799	c.125 others(816): Show c.125+9502_125+9503insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATATTATTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATTTATATATATTATATATATTTATATATATTTATATATATATTTATA TATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC4C_chr11_40109209_41464652	41103487	T T	TGTGTCTC others(792): Show TGTGTCTCCCTGGGTGTGTGTGTGTGTGTGTGTGAGACACACAGAGCACG TGGGAGCGCATTTCTCCCTGGGTGTGTGTGTGTGTGTGTGTGAGAGAGAG ACACAGAGCACGTGCGAGCTCATTTCTCCCTGGGTGTGTGGGTGTGTGTG TGAGAGAGACACAGAGCACGTGCGAGCTCATTTCTCCCTGGGTGTGTGTG TGTGTGTGTGTGTGTGTGTGGAGACACAGAGCACGTGGGAGCGCATTTCT CCCTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGA GACACAGAGCACGTGCGAGCTCATTTCTCCCTGGGTGTGTGTGTGTGTGT GTGTGTGAGAGAGACACAGAGCACGTGCGAGCTCATTTCTCCCTGGGTGT GTGTGTGTGTGTGTGTGTGTGTGTGGAGACACAGAGCACGTGGGAGCGCA TTTCTCCCTGTGTGTGTGTGTGTGTGTGTGACACACAGAGCACGTGGGAG CGCATTTCTCCCTGTGTGTGTGTGTGACACACAGAGCACGTGGGAGCGCA TTTCTCCCTGGGTGTGTGTGTGTGTGTGTGTGTGTGACACACAGAGCACG TGGGAGCGCATTTCTCCCTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGACAGAGCACGTGGGAGCGCATTTCTCCCTGGGTGTGTGTGTGTGTG TGTGTGTGTGTGTGAGACACAGAGCACGTGGGAGCGCATTTCTCTCTGGG TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGACACAGAGCACGTGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	48	0.0208	799	c.-49 others(822): Show c.-495-169765_-495-169764insCCCACGTGCTCTGTGTCTCTCT CACACACACACACACACACACACACACACCCAGAGAGAAATGCGCTCCCA CGTGCTCTGTGTCTCACACACACACACACACACACACACACACCCAGGGA GAAATGCGCTCCCACGTGCTCTGTCTCTCTCACACACACACACACACACA CACACACCCAGGGAGAAATGCGCTCCCACGTGCTCTGTGTGTCACACACA CACACACACACACACACCCAGGGAGAAATGCGCTCCCACGTGCTCTGTGT GTCACACACACACACAGGGAGAAATGCGCTCCCACGTGCTCTGTGTGTCA CACACACACACACACACACAGGGAGAAATGCGCTCCCACGTGCTCTGTGT CTCCACACACACACACACACACACACACACACCCAGGGAGAAATGAGCTC GCACGTGCTCTGTGTCTCTCTCACACACACACACACACACACACCCAGGG AGAAATGAGCTCGCACGTGCTCTGTGTCTCTCTCACACACACACACACAC ACACACACACACACACACACACCCAGGGAGAAATGCGCTCCCACGTGCTC TGTGTCTCCACACACACACACACACACACACACACACCCAGGGAGAAATG AGCTCGCACGTGCTCTGTGTCTCTCTCACACACACACCCACACACCCAGG GAGAAATGAGCTCGCACGTGCTCTGTGTCTCTCTCTCACACACACACACA CACACACCCAGGGAGAAATGCGCTCCCACGTGCTCTGTGTGTCTCACACA CACACACACACACACCCAGGGAGACAC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(792): Show AAGGGGGGAAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGA GGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGGGAAGGGGACAGGGGTGAGGGGAAGG GGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAG GGGAGGAGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGTGAGGGGAGGGGG GGAGTGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGGGGAGGGGAGG GGAGGGGGAGGAGAGAGAGGGAGGGGGAGGGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGG GATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAG GGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAGGGGAGGGGAGGGGTGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0014	a0003c0005t0014g0265 a0003c0005t0014g0265	1	8	0.1250	799	c.250 others(814): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCTCACCCCTC CCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCC CTCCCCCTCCACTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC TCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCCCTCCCCCTC CCTCTCTCTCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCACTCCCCCCCTCCCCTCACCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCTC CCCTCCCCCCTCCTCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCCTTCCCCCCCTTCCCCTCACCCCTGTCCCCTTCCCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(792): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATATACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATATATACACATACA TGGTATATATTCCATATATATATACACATACATGGTATATATTCCATATA TACATACATGGTATATATTCCATATATACATACATGGTATATATTCCTAT ATATACATACATGGTATATATTCCAATATATACATACATGGTATATATTC CATATATATACATACATGGTATATATTCCATATATATACATACATGGTAT ATATTCCATATATATATACATACATGGTATATATTCCATATATATACATA CATGGAATATATATATTCCATACATGGAATATATATATTCCATATATACA TATATATATTCCATATATACACATATATATATTCCATATATACACATATA CATGGAATATATATCTGTATATATATGGAATATATATATGTATATATATG AAATATATATGTATATGTATTTATATTATGTATTTATATTATAAATATAT ATTATGTATATATATTTATATTATAAATATATATTATGTATATATTTATA ATATAAATATATATTATGTATATATATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	36	0.0278	799	c.474 others(818): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACATACATGGTATATATTCCATATATATATACACATACATGGTATATA TTCCATATATATATACACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATACATACATGGTATATATTCCATATAT ACATACATGGTATATATTCCTATATATACATACATGGTATATATTCCAAT ATATACATACATGGTATATATTCCATATATATACATACATGGTATATATT CCATATATATACATACATGGTATATATTCCATATATATATACATACATGG TATATATTCCATATATATACATACATGGAATATATATATTCCATACATGG AATATATATATTCCATATATACATATATATATTCCATATATACACATATA TATATTCCATATATACACATATACATGGAATATATATCTGTATATATATG GAATATATATATGTATATATATGAAATATATATGTATATGTATTTATATT ATGTATTTATATTATAAATATATATTATGTATATATATTTATATTATAAA TATATATTATGTATATATTTATAATATAAATATATATTATGTATATATAT TTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(792): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCA GGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGA GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18995.hp1 HG00423.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0164 a0001c0001t0007g0221 a0001c0001t0004g0164 a0001c0001t0007g0221	2	207	0.0097	799	c.140 others(816): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCA CCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGC ACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCC ACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC TCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAG TGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(792): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCACCCTCCCC TCTCCCCTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCC CTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCC CCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0200 a0001c0001t0028g0200	1	206	0.0049	799	c.433 others(816): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGAAG GGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGAGGGGAGGGGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(792): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCTC TCCCCTCCTCTCCCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTACCCTCCCCTACCCTCCCCTCCCCTCCCACCC TCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0016 a0001c0001t0039g0016	1	30	0.0333	799	c.433 others(816): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGTAGGGGA GGGTAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGG GAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PJA2_chr5_109329722_109414974	109354123	G G	GATATCTA others(792): Show GATATCTAGAGATATCTATAGATTAGATATCTATATCAAGAGATGTCTAT AGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCTATGATA TCTAGAGATGTCTATAGAGTAGATATCTATGATGTCTAGAGATTTCTATA GATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCTATGA TGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGATATCTA TAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGCTATCTAGAGATATCTATAGATTAGATATCTGTGATATCTAGAGATA TCTATAGATTGGATATCTATATCTAGAGATATCTATAGATTGGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATAGA TATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0077 a0003c0003t0002g0077	1	331	0.0030	799	c.176 others(818): Show c.1764+1791_1764+1792insAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCTCTAG ATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATATCTA ATCTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCT AGATATAGATATCCAATCTATAGATATCTCTAGATATCACAGATATCTAA TCTATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATAT CTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATC TCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGAT ATCTACTCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACA TCTCTAGATATAGATATCTAATCTATAGACATCTCTTGATATAGATATCT AATCTATAGATATCTCTAGATAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(792): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGT GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCC GCAGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGGGG GCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGC ACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGG TGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGCGGGTGGAGCCACA GGGACGGGCGCTGTGGGCACGGCCGTGGGGTGGAGCCACAGGGACGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGGTGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGG ATGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGC AGGGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGG CGCTGTGGGCACGGCCGTTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGG CACGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGTG GGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0165 a0002c0013t0003g0165	1	133	0.0075	799	c.533 others(816): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCAACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCC GTGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAG CGCCCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCC CTGCGGCTGCACACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCCACGG CCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCGCAGCCCTGCCCACA GCGCCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCC CTGTCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCA CCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCG TGCCCACAGCGCCCCCTCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCG CCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCT GTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGT GCCCACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCACGGC others(792): Show GTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0283	1	163	0.0061	799	c.335 others(818): Show c.335-11464_335-11463insCACGGCGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTA GGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133730	T T	TCCTCTCT others(792): Show TCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCT TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTT CCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	223	0.0045	799	c.22 others(810): Show c.2298_*2299insCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTC CCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTC TCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2018		chr19	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(792): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGAAGGAGAAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGAGG AGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAA AGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAA AGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGG AGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATA GAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	217	0.0046	799	c.916 others(816): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCT CCTCCTTCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTC CTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCT CCTTTTCCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCT TCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCTTTC TCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(792): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATATTCCATATATATATATA TTCCATATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	230	0.0043	799	c.115 others(816): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATATGGAATATATATATATATGGAATATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATATGGAATATATATATATATGGAATATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(792): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	166	0.0060	799	c.115 others(816): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(792): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18973.hp2 HG02056.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0065 a0001c0001t0001g0093	2	118	0.0169	799	c.77- others(816): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCC CCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTT TCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(792): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18973.hp1 HG02056.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0111 a0001c0001t0001g0113	2	122	0.0164	799	c.22+ others(816): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCC CCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTT TCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(792): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTG GAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCAGGGAAGGCGCTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0253 a0001c0004t0001g0253	1	208	0.0048	799	c.115 others(816): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCCAC CCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT CTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCC CCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTG CCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(792): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0289 a0001c0001t0005g0289	1	3	0.3333	799	c.597 others(816): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(792): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAG AGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGT GGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAG GAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGT GGGGGGAGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGA GAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	31	0.0323	799	c.638 others(814): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAG AAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGTGG GGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAGGA GGTGGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGG GGGGAGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGA AGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGGGA GAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1291223	G G	GACGGCAC others(792): Show GACGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCA CCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCAC GTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGG GACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACACCCG GGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGC ACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACT CACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACA GGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACC CGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACG GCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCA CTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCT ACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGA CAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	257	0.0039	799	c.157 others(818): Show c.1573+2089_1573+2090insTCCCCGGGTGTCCCTGTCACGTGCAG GGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTG AGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGT AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAT TGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG GGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCC TGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTG AGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGTGCCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291223	G G	GACGGCGC others(792): Show GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCA CCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACAC GTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGG GACACCCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGC GCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACT CACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACA GGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACC CGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACG GCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCA CTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCT GCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGA CAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACA CCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	257	0.0039	799	c.157 others(818): Show c.1573+2089_1573+2090insTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTG ACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGT AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAG TGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGA GGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG CGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCC TGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGT GTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTGAGGC GCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCGCCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(792): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACGCGGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCG GGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03927.hp1 HG04228.hp1 others(1): Show HG00280.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0039 a0001c0004t0001g0023 a0001c0004t0001g0049 others(1): Show a0001c0002t0001g0039 a0001c0004t0001g0023 a0001c0004t0001g0049 a0001c0004t0001g0050	4	303	0.0132	799	c.157 others(818): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGT CCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGG GTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGA CGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGT CCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGT GTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGT CACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCA GGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGT GAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACT GTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCT GTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(792): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGGACGGCGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGA CACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCA CCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCAC GTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCG GGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02148.hp2 HG00741.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0059 a0001c0004t0001g0043 a0001c0002t0001g0059 a0001c0004t0001g0043	2	301	0.0066	799	c.157 others(818): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGT GTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGT CACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCA GGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGT GAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACT GTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCT GTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(792): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGGACGGCGCCTCA CTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCT GCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACA CCCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGA CGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACC CTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGA CACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCA CCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCAC GTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCG GGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02523.hp2 HG02622.hp2 others(2): Show HG00408.hp2 HG02523.hp2 HG02622.hp2 HG03654.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0118 a0001c0002t0001g0010 a0001c0002t0001g0016 others(2): Show a0001c0001t0001g0118 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0040 a0001c0002t0001g0064	5	304	0.0164	799	c.157 others(818): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCCGCGTGTCCCT GTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TMEM132C_chr12_128262170_128712911	128292999	A A	AAAATGTG others(792): Show AAAATGTGATTCTTTTTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0067 a0003c0010t0003g0067	1	165	0.0061	799	c.85+ others(816): Show c.85+25525_85+25526insTTTTTTTTTTTTTTTTTTAATTTATTTA TTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGC AATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCAT TTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGT TCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAG TTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTC TCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGT GTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAG TGATGATGAAATGTGATTCTT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128292999	A A	AAAATGTG others(792): Show AAAATGTGATTCTTTTTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp2 HG02809.hp2 HG03195.hp2	a0006 a0016 a0006 a0016	a0006c0017 a0016c0068 a0006c0017 a0016c0068	a0006c0017t0003 a0016c0068t0003 a0006c0017t0003 a0016c0068t0003	a0006c0017t0003g0086 a0016c0068t0003g0085 a0006c0017t0003g0086 a0016c0068t0003g0085	2	166	0.0120	799	c.85+ others(816): Show c.85+25525_85+25526insTTTTTTTTTTTTTTTTTTAATTTATTTT TATTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGC AATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCAT TTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGT TCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAG TTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTC TCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGT GTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAG TGATGATGAAATGTGATTCTT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(792): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACCCTACACACCCCACACACACCACACA CACACATCACATACCACACACACATCACATACCACACACAAACCACACAC CACACACACACCACACACCCCACACACACATCACATACCACACACAAACC ACACACCCAACACACACATCACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCTACACACACCACACACCCCACACACAC ATCACACACCACACACACCACACACACCCCACACACACCACACACACACA TCACATACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACACCACACAC CCCACACACACCACACACACACACCACACACACATCACATACCACACACA AACCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCC ACACACACACCACACACCCCACACACACATCACATACCACACACCCCACA CACCCCACACACCACACACACACCACACACCCCACACACACATCACATAC CACACACAAACCACACACCCTACACGCACCACACACCCCACACACACCAC ACACCCGACACACGCCACACACACACCACACACCCCACGCACACATCACA TACCACACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	35	0.0286	799	c.35 others(818): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACA CACACCACACACACACATCACATACCACACACACATCACATACCACACAC AAACCACACACCACACACACACCACACACCCCACACACACATCACATACC ACACACAAACCACACACCCAACACACACATCACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCTACACACACCACACAC CCCACACACACATCACACACCACACACACCACACACACCCCACACACACC ACACACACACATCACATACCACACACCCGACACACGCCACACACACACCA CACACCCCACGCACACATCACATACCACACACAAACCACACACCCTACAC ACACCACACACCCCACACACACCACACACACACACCACACACACATCACA TACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACA CCACACACCCCACACACACACCACACACCCCACACACACATCACATACCA CACACCCCACACACCCCACACACCACACACACACCACACACCCCACACAC ACATCACATACCACACACAAACCACACACCCTACACGCACCACACACCCC ACACACACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACCCCACACAC CCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS53_chr17_503668_719839	619666	G G	GTGTACCA others(792): Show GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ACGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GTGCACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC GTGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCG TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19064.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0074 a0001c0002t0068 a0001c0002t0074	a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0002t0068g0093 a0001c0002t0074g0095	2	82	0.0244	799	c.111 others(818): Show c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGAA ATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAAA TATTAGCGGGGTGTGGTGGTACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(792): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCACCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCACCATC AGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCAC CATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCA CTACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATC ACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGC CACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCT CCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATC ACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCAC AGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCA TTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTC ATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATT ATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCAC CACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCT TTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	21	0.0476	799	c.127 others(816): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCACCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGT CATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCA CCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGT GTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTAT ACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCA TCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCC ACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAG CACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCACCA TCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCACTG CCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACCATC TGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCATCAC CACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCATAC CACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WWP2_chr16_69757332_69946739	69820685	C C	CATCTTAG others(792): Show CATCTTAGCCTCCCGAATAGTTGGGATTACAGATGTGCACCACCATGCTC AGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTTGCTATGTTGACCA GGCTGGTCTCGAACTCCTGACATCAAGTGATCCACCCACCTTGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCTACTGTGCCCAGCCAGATGCTTTG TTTTTGTTTTGTATAAATGTACCCACAGTTTAACCAGTCTTTCATTCTTG GCCCTTTCTATTGTTTTTTACAATTACTAGCAGCACTTTTTGTTAAACTC TTTTTTTTTTTTTTAAAGAGATGGAGTCTCGCTCCGTCACACAGGGGTGT GATCACAGCTCATTGCAGCCTTGACCTCCCAGGCTCAAGTGATCCTCCCA CCTCAGCCTTCCGAGTAGCTGAGATTACAGGCTTGTGTCACCATGCTTGG CTAATTTTGGCATTTCCTCCCTCCTCAGCCTCCCAAAGTGTTGGGATTAC AGGTGTGAGCCATTGTGCCCAGCCTAAATTCTTGTAAAGATACCTTTATG CTCCTCTTTTTTTTTCCCTACAGTAAATTCCCAGGCATGCAGTCGCTGGG TCAGAAGGTGGGCGTGTTTCAAGTTTTTGATGCCTGCTGCCTGTGTCCAT GGCAGAGTCTGGACCAATTTACACACTGTAAGGGTGCCACATACCTGTTT CCCTGTATCTCCAACAGCACTGGGTGTTGTCAGTCTTTTTAACTTACCTT AGTCTGTTAGGCAAAGTGATTTCTCTTTGTTATTTTATTTTATTTTGTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0252 a0001c0002t0003g0252	1	312	0.0032	799	c.341 others(818): Show c.341-19441_341-19440insATCTTAGCCTCCCGAATAGTTGGGAT TACAGATGTGCACCACCATGCTCAGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTTTGCTATGTTGACCAGGCTGGTCTCGAACTCCTGACATCAAG TGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCT ACTGTGCCCAGCCAGATGCTTTGTTTTTGTTTTGTATAAATGTACCCACA GTTTAACCAGTCTTTCATTCTTGGCCCTTTCTATTGTTTTTTACAATTAC TAGCAGCACTTTTTGTTAAACTCTTTTTTTTTTTTTTAAAGAGATGGAGT CTCGCTCCGTCACACAGGGGTGTGATCACAGCTCATTGCAGCCTTGACCT CCCAGGCTCAAGTGATCCTCCCACCTCAGCCTTCCGAGTAGCTGAGATTA CAGGCTTGTGTCACCATGCTTGGCTAATTTTGGCATTTCCTCCCTCCTCA GCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCATTGTGCCCAGCCTAA ATTCTTGTAAAGATACCTTTATGCTCCTCTTTTTTTTTCCCTACAGTAAA TTCCCAGGCATGCAGTCGCTGGGTCAGAAGGTGGGCGTGTTTCAAGTTTT TGATGCCTGCTGCCTGTGTCCATGGCAGAGTCTGGACCAATTTACACACT GTAAGGGTGCCACATACCTGTTTCCCTGTATCTCCAACAGCACTGGGTGT TGTCAGTCTTTTTAACTTACCTTAGTCTGTTAGGCAAAGTGATTTCTCTT TGTTATTTTATTTTATTTTGTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	4/23			chr16	TogoVar
YBEY_chr21_46281342_46302751	46294398	A A	ACAGCCAC others(792): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	287	0.0035	799	c.340 others(816): Show c.340-1693_340-1692insAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876163	C C	CTTCCCCC others(792): Show CTTCCCCCCCTTCCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCC CCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCTCTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCTTCCCTCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCCCCTTCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT TCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCC CTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	234	0.0043	799	c.-10 others(816): Show c.-10-3219_-10-3218insCTTCCCCCCTTCCCCCCTTCCCCTTCCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCC TTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCTTCCCTC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCCT TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCC CCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar

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