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
CCKAR_chr4_26476396_26495484	26492679	C C	CTCTTTCT others(291): Show CTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCCCTTCCTTCCT TCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCTCTCTCTT TCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTTTCTTTCTCTCT TTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTC TCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	452	0.0022	298	c.-24 others(309): Show c.-2413_-2412insAAGAGAAAAAGAAAGGAGGGAGGGAGGGAAGAAA GGAAAGAAAGAGAGAGAGAAAGAAAGGAGGAAGGGAGGGAAGAAAGGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAAAGAAAGGAGGGAGGGAG GGAAGAAAGGAAAGAAAGAGAGAGAGAAAGAAAGGAGGAAGGGAGGGAAG AAAGGAAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAGA GAAAGAAAGAAAGA	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2196		chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(291): Show AAAAAATATATATATATATATATATATATATATATATATACACAATCATA TATATATATATATATACTCATATATATATATATATATACTCATATATATA TATATATACTCATATATATATATATACTCATATATATATATATATACTCA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATATACACTCATATATATATATATACACTCATATATATATA TATATATACTCATATATATATATATATATATACTCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0018 a0002c0003t0006g0018	1	218	0.0046	298	c.232 others(319): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATACACAATCATATATATATATATATATACTCATATATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATACTCATATATATATATATATACACTCATATATA TATATATACACTCATATATATATATATATATACTCATATATATATATATA TATATACTCATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(291): Show AAAAAATATATATATATATATATATATATATATATATATATACACACTCA TATATATATATATATATACTCATATATATATATATATACTCATATATATA TATATATACTCATATATATATATATACTCATATATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATATACACTCATATATATATATATACACTCATATATATA TATATATATACTCATATATATATATATATATACTCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0015 a0002c0003t0006g0015	1	218	0.0046	298	c.232 others(319): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATATACACACTCATATATATATATATATATACTCATATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATATATACACTCATATA TATATATATACACTCATATATATATATATATATACTCATATATATATATA TATATACTCATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(291): Show AAAAAATATATATATATATATATATATATATATATATATATACACACTCA TATATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATATATACTCATATATATATATATACTCATATATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATATACACTCATATATATATATATACACTCATATA TATATATATATACTCATATATATATATATATATACTCATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0019 a0002c0003t0006g0019	1	218	0.0046	298	c.232 others(319): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATATACACACTCATATATATATATATATATATACTCATA TATATATATATATATACTCATATATATATATATATACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATACTCATATA TATATATACTCATATATATATATACTCATATATATATATATATACACTCA TATATATATATATACACTCATATATATATATATATACTCATATATATATA TATATATACTCATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(291): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATACTCATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATATATATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0003 a0012c0018t0003	a0012c0018t0003g0103 a0012c0018t0003g0103	1	290	0.0034	298	c.232 others(319): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATATACTCATATATATATATATATATATATA CTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(291): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATACTCA TATATATATATATATATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0362 a0002c0002t0003g0362	1	290	0.0034	298	c.232 others(319): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATACTCATATATATATATATATATATATA CTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355861	A A	ATATATGT others(291): Show ATATATGTATATACACAAGTGTGTATATACGTATATACACAAGTGTGTAT ATACGTATATACACAAGTGTGTATATACGTATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	273	0.0037	298	c.27 others(309): Show c.2761_*2762insTATATGTATATACACAAGTGTGTATATACGTATA TACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		701		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(291): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	29	0.0345	298	c.27 others(309): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(291): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	298	c.27 others(309): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(291): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACAAGTGTGTATATACGTATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	298	c.27 others(309): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACAAGTGTGTATATACGTATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(291): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01978.hp2 HG01943.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0040	2	30	0.0667	298	c.27 others(309): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(291): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	29	0.0345	298	c.27 others(309): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH4_chr20_61247261_61945617	61337298	A A	ATGATGAT others(291): Show ATGATGATAATGATGGTGGTATGATGATGTGGATGGTAATGGTGATGATA ACAGTGGATAATGATGGCAATGCAAGTGATGATATTGATGATGATGGTGA TGACAGTGCTGATAATGATCATAATGGTGATGATGATGATGGTGATTATT GTAATAGTGATGACAGTGATGATGATAATGATGGTGATAAGAGTGGATAA TGATAATAATGATGATGGTGATTTTAATAGTGATGATGATGTTAAGATGA TTATGGTGATGATGATAGTGATGATGATGGTGATGATAACAGTGGATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01106.hp1 others(13): Show HG00408.hp2 HG00738.hp1 HG01106.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02148.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0022 a0002c0002 others(7): Show a0001c0001 a0001c0022 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0015 a0002c0024 a0004c0025	a0001c0001t0002 a0001c0001t0046 a0001c0022t0010 others(13): Show a0001c0001t0002 a0001c0001t0046 a0001c0022t0010 a0002c0002t0004 a0002c0002t0011 a0002c0002t0013 a0002c0002t0036 a0002c0004t0002 a0002c0005t0002 a0002c0005t0005 a0002c0005t0007 a0002c0008t0024 a0002c0009t0031 a0002c0015t0007 a0002c0024t0015 a0004c0025t0001	a0001c0001t0002g0059 a0001c0001t0046g0062 a0001c0022t0010g0071 others(13): Show a0001c0001t0002g0059 a0001c0001t0046g0062 a0001c0022t0010g0071 a0002c0002t0004g0014 a0002c0002t0011g0082 a0002c0002t0013g0061 a0002c0002t0036g0057 a0002c0004t0002g0079 a0002c0005t0002g0060 a0002c0005t0005g0103 a0002c0005t0007g0099 a0002c0008t0024g0024 a0002c0009t0031g0009 a0002c0015t0007g0025 a0002c0024t0015g0051 a0004c0025t0001g0100	16	61	0.2623	298	c.169 others(317): Show c.169+82365_169+82366insGATAATGATGGTGGTATGATGATGTG GATGGTAATGGTGATGATAACAGTGGATAATGATGGCAATGCAAGTGATG ATATTGATGATGATGGTGATGACAGTGCTGATAATGATCATAATGGTGAT GATGATGATGGTGATTATTGTAATAGTGATGACAGTGATGATGATAATGA TGGTGATAAGAGTGGATAATGATAATAATGATGATGGTGATTTTAATAGT GATGATGATGTTAAGATGATTATGGTGATGATGATAGTGATGATGATGGT GATGATAACAGTGGATACTGAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF2_chr10_11012872_11341675	11284083	T T	TGAGTGTG others(291): Show TGAGTGTGTGGTGGGTGGATGAGGGATGAGTGGTGGGTGGATGATGGATG AGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGA TGGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGAGGGAT GGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGATG AGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGA TGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	127	0.0079	298	c.842 others(315): Show c.842-4334_842-4333insAGTGTGTGGTGGGTGGATGAGGGATGAG TGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGAGGGATGGAGGGGTGGGTGGATGATGGATGACTGT GTGGTAGGTGGATGAGGGATGGAGGGGTGGGTGGATGATGGATGACTGTG TGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGATGAG TGTGTGGTGGGTGGATGACG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(291): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	273	0.0037	298	c.487 others(315): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CHTF18_chr16_783620_803074	795610	C C	CCCCCGGC others(291): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTC CCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0104 a0010c0010t0001g0104	1	420	0.0024	298	c.217 others(313): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCTCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCG CTGCCCGTGTGGCTGTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLCN5_chrX_49917596_50104230	50022388	T T	TAGCGGTC others(291): Show TAGCGGTCTATCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG02809.hp2 HG00738.hp1 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0125 a0001c0003t0003g0169 a0001c0003t0003g0175 a0001c0001t0001g0125 a0001c0003t0003g0169 a0001c0003t0003g0175	3	163	0.0184	298	c.17- others(315): Show c.17-19911_17-19910insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT CACAGCGGTCTATCAATTTT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNOT3_chr19_54132762_54160681	54133800	C C	CCCTCCCT others(291): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	204	0.0049	298	c.-42 others(309): Show c.-4244_-4243insCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCCTGTCTCCAC CTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3961		chr19	TogoVar
COA1_chr7_43634257_43734523	43691437	G G	GAAAGAAA others(291): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAGAGAGAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAGAGAGAAAGAGAGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGAAGGAAGAAGAAGAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	380	0.0026	298	c.-39 others(317): Show c.-39+37991_-39+37992insTTCTTTCTTTCTTTCTTTTTCTTCTT CTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTTCTCT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL4A2_chr13_110302284_110518209	110481891	G G	GTTGCTGG others(291): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACAGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGA CACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCA TTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTC TGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0020 a0020	a0020c0072 a0020c0072	a0020c0072t0048 a0020c0072t0048	a0020c0072t0048g0223 a0020c0072t0048g0223	1	293	0.0034	298	c.275 others(315): Show c.2759-624_2759-623insTGCTGGAGACACACAGTTCTGTCCCTCC GTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGA CACACTGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCTTCCGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202898	T T	TATATATA others(291): Show TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATACGTATATATACATATATGTGTATATATACGTATATATACATATATG TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACATATATGTGTATATATGTGTATATATA CATATATGTGTATATATGTGTATATATACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	260	0.0038	298	c.88- others(315): Show c.88-35064_88-35063insACATATATGTGTATATATGTGTATATAT ACATATATGTGTATATATACGTATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACGTATATATACATATATGTGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACATATATGTGTAT ATATGTGTATATATACATATATGTGTATATATGTGTATATATACATATAT GTGTATATATACACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970419	G G	GCTGTGGG others(291): Show GCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGT GGGGGCTATAAGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGTTGA CTGGGTGCTGTGGGGTGAGTGGGGTCTGTAGGTGAGTGGGGTCTGTGGGT GAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGG GGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGTTGACTGGGGTCTGT GGGGTGAGTGGAATCTGTGGGTGAGTGGGGTCTGTGGGGTAAGCGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0277 a0002c0034t0002g0277	1	292	0.0034	298	c.393 others(315): Show c.3936+202_3936+203insTCCCCGCTTACCCCACAGACCCCACTCA CCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCACAGACCCCACT CACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCC ACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCTACAGACCC CACTCACCCCACAGCACCCAGTCAACCACAGACCCCACTCACCCACAGAC CCCACTCACCTTATAGCCCCCACTCACCCCACAGACCCCACTCACCCCAC AGCCCCCGCTTACCCCACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCA others(291): Show CACCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTACC ACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCCA ACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA ACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0129 a0001c0004t0002g0129	1	259	0.0039	298	c.128 others(313): Show c.1287+70_1287+71insCCACAGTCCCCCACCCCCCACCCCAGTCCC CAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTAC CACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCC CACCCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCC CACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACC ACAGTCCCCCAACCCCCA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(291): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA ACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp1 HG02132.hp2 others(18): Show HG00673.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02293.hp1 HG03831.hp1 NA18940.hp2 NA18948.hp1 NA18960.hp2 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18990.hp1 NA19002.hp1 NA19004.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0153 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0337 a0001c0002t0008g0002 a0001c0008t0002g0053	21	279	0.0753	298	c.128 others(313): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(291): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC ACCCCCTACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACC ACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCA ACCCCCACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG03139.hp1 others(1): Show HG01081.hp2 HG02055.hp1 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0228 a0001c0004t0003g0244	4	262	0.0153	298	c.128 others(313): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCACCCCCTACCACAGTCCCCCAACCCCTACCACAGTCC CCCAACCCCCACCACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCCA TGACAGTCCCCCAACCCCCACCACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(291): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTTCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA ACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0047 a0009c0047	a0009c0047t0001 a0009c0047t0001	a0009c0047t0001g0136 a0009c0047t0001g0136	1	259	0.0039	298	c.128 others(313): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTTCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(291): Show CACCCCCCACCACAGTCCCCTACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA ACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	259	0.0039	298	c.128 others(313): Show c.1287+69_1287+70insCACCACAGTCCCCTACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(291): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	256	0.0039	298	c.510 others(317): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(291): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	21	0.0476	298	c.510 others(317): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(291): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	21	0.0476	298	c.510 others(317): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978450	A A	ATATATTT others(291): Show ATATATTTATATATATATTTATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATATTTACATATATTTATATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	83	0.0120	298	c.-2+ others(315): Show c.-2+56116_-2+56117insAATATATATAAATATATATAAATATATA TATAAATATATGTAAATATATATATAAATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCAC others(291): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02738.hp2 HG02129.hp2 HG02738.hp2	a0001 a0040 a0001 a0040	a0001c0022 a0040c0065 a0001c0022 a0040c0065	a0001c0022t0002 a0040c0065t0002 a0001c0022t0002 a0040c0065t0002	a0001c0022t0002g0239 a0040c0065t0002g0253 a0001c0022t0002g0239 a0040c0065t0002g0253	2	226	0.0088	298	c.489 others(313): Show c.489-777_489-776insTCCCCACACTAACCCAGCCCCCCACACTAA CCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACAC TAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCC CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSMD1_chr8_2930361_4999914	3558379	A A	ACCCCGTG others(291): Show ACCCCGTGTCCACTCCTCCAATGATGAACGGTGTCTCAATGGTACCCCGT GTCCACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACT CCTCCAATGATGAACGGTACCTCAATGGTACCCCGTGTCCACTCCTGCAA TGATGAACAGTGTCTCAATAGTACCCTGTGTCCACTCCTCCAGTGATGAA TGGTGCCTCAATGGAACTCCGTGTTCACTCCTCCAATGATGAATGATGCC TCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG02886.hp1 others(4): Show HG01255.hp1 HG02280.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0022 a0028	a0001c0039 a0001c0085 a0001c0111 others(4): Show a0001c0039 a0001c0085 a0001c0111 a0002c0031 a0004c0034 a0022c0062 a0028c0044	a0001c0039t0064 a0001c0085t0020 a0001c0111t0045 others(4): Show a0001c0039t0064 a0001c0085t0020 a0001c0111t0045 a0002c0031t0015 a0004c0034t0029 a0022c0062t0057 a0028c0044t0071	a0001c0039t0064g0080 a0001c0085t0020g0060 a0001c0111t0045g0063 others(4): Show a0001c0039t0064g0080 a0001c0085t0020g0060 a0001c0111t0045g0063 a0002c0031t0015g0001 a0004c0034t0029g0038 a0022c0062t0057g0062 a0028c0044t0071g0085	7	73	0.0959	298	c.134 others(319): Show c.1344+16565_1344+16566insCATTGAGGCACCATTCATCATTGG AGGAGTGGACACGGGGTACTACTGAGGCATCATTCATCATTGGAGGAGTG AACACGGAGTTCCATTGAGGCACCATTCATCACTGGAGGAGTGGACACAG GGTACTATTGAGACACTGTTCATCATTGCAGGAGTGGACACGGGGTACCA TTGAGGTACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGAC ACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGACACCGTTC ATCATTGGAGGAGTGGACACGGGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967647	G G	GCCACCCT others(291): Show GCCACCCTTCAGTTCTGCACGTGGGGGCTCCTCCCTCCTCCCCAGGCTGC CCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTC CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTT CCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGG GGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0101 a0001c0007t0001g0101	1	371	0.0027	298	c.-26 others(317): Show c.-265-1843_-265-1842insCGTGGGGGCTCCTCCCTCCTCCCCAG GCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCC TCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCC TCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCA GGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCT TCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCC CCGACCACCCTTCAGTTCTGCA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(291): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	273	0.0037	298	c.-27 others(319): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(291): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01975.hp1 HG02896.hp2 others(4): Show HG01099.hp1 HG01975.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2 NA19054.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0021	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0021c0025	a0001c0001t0002 a0003c0003t0002 a0004c0005t0001 others(2): Show a0001c0001t0002 a0003c0003t0002 a0004c0005t0001 a0004c0005t0002 a0021c0025t0001	a0001c0001t0002g0257 a0003c0003t0002g0259 a0004c0005t0001g0006 others(3): Show a0001c0001t0002g0257 a0003c0003t0002g0259 a0004c0005t0001g0006 a0004c0005t0001g0237 a0004c0005t0002g0365 a0021c0025t0001g0183	7	279	0.0251	298	c.-27 others(319): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(291): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	307	0.0033	298	c.-42 others(309): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CACCCCCA others(291): Show CACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCC CACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCGCACCCTCACCCCCACCCCCACCCTCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	253	0.0040	298	c.39 others(309): Show c.3984_*3985insCGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGG TGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGC GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGG GGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGG GTGGGGGTGGGGGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIP2C_chr10_269201_694668	425237	G G	GGTGACTA others(291): Show GGTGACTAATATGAAATGGATACAGCATGACCAGCAGTGACTAATATGAC ACGGATTATACAGCATGACCAGCGGTGACTAATATGACACGGATTATACA GCATGACCAGCGGTGACTAATATGACACGGATGATACAGCATGACCAGTG GTGACTAATATGACATGGATGATACAGCATGACCAGCGGTGACTAATATG AAACGGATACAGCATGACCAGCGGTGATTAATATGACACGGATGATACAG CATGACCAGCAGTGACTAATATGACACGGATGATACAGCATGACCAGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	298	c.395 others(315): Show c.395-2205_395-2204insTGCTGGTCATGCTGTATCATCCGTGTCA TATTAGTCACTGCTGGTCATGCTGTATCATCCGTGTCATATTAATCACCG CTGGTCATGCTGTATCCGTTTCATATTAGTCACCGCTGGTCATGCTGTAT CATCCATGTCATATTAGTCACCACTGGTCATGCTGTATCATCCGTGTCAT ATTAGTCACCGCTGGTCATGCTGTATAATCCGTGTCATATTAGTCACCGC TGGTCATGCTGTATAATCCGTGTCATATTAGTCACTGCTGGTCATGCTGT ATCCATTTCATATTAGTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425323	G G	GTGACACG others(291): Show GTGACACGGATGATACAGCATGACCAGCGGTGACTAATGTGACACGGATG ATACGGCATGACCAGCGGTGACTAATATGACACGGATGATACGGCATGAC CAGCAGTGACTAATATGACACGGATGATACAGCATGACCAGTGGTGACTA ATGTGAAATGGATACAGCATGACCAGCGGTGACTAATATGACACAGATGA TACAGCATGACCAGTGGTGACTAATATGACACGGATGATACAGCATGACC AGCGGTGACTAATATGAAATGGATGCAGCATGACCAGCGGTGACTAATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02027.hp2 HG02071.hp2 others(7): Show HG00609.hp2 HG02027.hp2 HG02071.hp2 HG02280.hp2 HG03834.hp2 NA18747.hp2 NA18970.hp1 NA19007.hp1 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0009 a0001c0003 a0001c0004 a0001c0009	a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 others(1): Show a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0009t0003	a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0003t0002g0050 others(7): Show a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0062 a0001c0003t0002g0064 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0004t0001g0061 a0001c0004t0003g0048 a0001c0009t0003g0003	10	12	0.8333	298	c.395 others(315): Show c.395-2291_395-2290insTATTAGTCACCGCTGGTCATGCTGCATC CATTTCATATTAGTCACCGCTGGTCATGCTGTATCATCCGTGTCATATTA GTCACCACTGGTCATGCTGTATCATCTGTGTCATATTAGTCACCGCTGGT CATGCTGTATCCATTTCACATTAGTCACCACTGGTCATGCTGTATCATCC GTGTCATATTAGTCACTGCTGGTCATGCCGTATCATCCGTGTCATATTAG TCACCGCTGGTCATGCCGTATCATCCGTGTCACATTAGTCACCGCTGGTC ATGCTGTATCATCCGTGTCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425323	G G	GTGACACG others(291): Show GTGACACGGATGATACAGCATGACCAGCGGTGACTAATGTGACACGGATG ATACGGCATGACCAGCGGTGACTAATATGACACGGATGATACGGCATGAC CAGCGGTGACTAATATGACACGGATGATACAGCATGACCAGTGGTGACTA ATGTGAAATGGATACAGCATGACCAGCGGTGACTAATATGACACAGATGA TACAGCATGACCAGTGGTGACTAATATGACACGGATGATACAGCATGACC AGCGGTGACTAATATGAAATGGATGCAGCATGACCAGCGGTGACTAATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	3	0.3333	298	c.395 others(315): Show c.395-2291_395-2290insTATTAGTCACCGCTGGTCATGCTGCATC CATTTCATATTAGTCACCGCTGGTCATGCTGTATCATCCGTGTCATATTA GTCACCACTGGTCATGCTGTATCATCTGTGTCATATTAGTCACCGCTGGT CATGCTGTATCCATTTCACATTAGTCACCACTGGTCATGCTGTATCATCC GTGTCATATTAGTCACCGCTGGTCATGCCGTATCATCCGTGTCATATTAG TCACCGCTGGTCATGCCGTATCATCCGTGTCACATTAGTCACCGCTGGTC ATGCTGTATCATCCGTGTCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38084398	A A	AGTGGTGG others(291): Show AGTGGTGGTGGTAGTAGTAGTAGTGGTGGTGGTGGTGGTAGTAGTAGTAA TAGTAGTGGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTA GTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGT AGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGG GGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18967.hp2 NA19065.hp1 others(1): Show NA18942.hp2 NA18967.hp2 NA19065.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 others(1): Show a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176	4	298	0.0134	298	c.126 others(315): Show c.1261+155_1261+156insGGTGGTGGTAGTAGTAGTAGTGGTGGTG GTGGTGGTAGTAGTAGTAATAGTAGTGGTGGTGGTGGTAGTAGTGGTGGT AGTAGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGG TAGTAGTAGTGGTAGTAGTAGTAGTGGGGGGGTGGTAGTAGTAGTGGTAG TAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTG GTAGTAGTAGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTG GTAGTAGTAGTAGTGGTGGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(291): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATATACACATATATA TATACACATATATATATATACACATATATATATATACACATATATATATA CACACATATATATATATATATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0199 a0007c0007t0001g0199	1	153	0.0065	298	c.730 others(317): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATGTGTGTATATATATATGTGTATATATATATAT GTGTATATATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATACACACGTATATATATATACGTGTATATAT ATACACGTATATATATATACGTATATATATATGTATATATATGTATATAT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0259 a0024c0027t0001g0259	1	2	0.5000	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00639.hp2 others(22): Show HG00423.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01257.hp2 HG01891.hp2 HG01952.hp1 HG02083.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02896.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 NA18966.hp1 NA19043.hp2 NA19091.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0011 a0016 a0017 a0021 a0024 a0027 a0036 a0052 a0060 a0061 a0066 a0069 a0074	a0001c0001 a0001c0105 a0002c0004 others(14): Show a0001c0001 a0001c0105 a0002c0004 a0003c0021 a0011c0119 a0016c0094 a0017c0026 a0021c0045 a0024c0027 a0027c0039 a0036c0082 a0052c0054 a0060c0069 a0061c0063 a0066c0110 a0069c0085 a0074c0073	a0001c0001t0001 a0001c0105t0001 a0002c0004t0001 others(14): Show a0001c0001t0001 a0001c0105t0001 a0002c0004t0001 a0003c0021t0001 a0011c0119t0001 a0016c0094t0001 a0017c0026t0001 a0021c0045t0001 a0024c0027t0001 a0027c0039t0001 a0036c0082t0001 a0052c0054t0001 a0060c0069t0001 a0061c0063t0001 a0066c0110t0001 a0069c0085t0001 a0074c0073t0001	a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0001g0278 others(22): Show a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0001g0278 a0001c0105t0001g0107 a0002c0004t0001g0125 a0002c0004t0001g0150 a0002c0004t0001g0196 a0002c0004t0001g0253 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0021t0001g0149 a0011c0119t0001g0250 a0016c0094t0001g0132 a0017c0026t0001g0200 a0021c0045t0001g0251 a0021c0045t0001g0252 a0024c0027t0001g0220 a0027c0039t0001g0267 a0036c0082t0001g0226 a0052c0054t0001g0205 a0060c0069t0001g0071 a0061c0063t0001g0004 a0066c0110t0001g0246 a0069c0085t0001g0182 a0074c0073t0001g0210	25	26	0.9615	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 NA19043.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp1	a0016 a0016	a0016c0034 a0016c0125 a0016c0034 a0016c0125	a0016c0034t0001 a0016c0125t0001 a0016c0034t0001 a0016c0125t0001	a0016c0034t0001g0142 a0016c0034t0001g0144 a0016c0125t0001g0255 a0016c0034t0001g0142 a0016c0034t0001g0144 a0016c0125t0001g0255	3	4	0.7500	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0034 a0034	a0034c0135 a0034c0135	a0034c0135t0001 a0034c0135t0001	a0034c0135t0001g0069 a0034c0135t0001g0069	1	2	0.5000	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02818.hp2 HG01256.hp2 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0017 a0001c0001 a0004c0017	a0001c0001t0001 a0004c0017t0001 a0001c0001t0001 a0004c0017t0001	a0001c0001t0001g0263 a0004c0017t0001g0116 a0001c0001t0001g0263 a0004c0017t0001g0116	2	3	0.6667	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGGCCGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GAGGGGCCGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0005 a0001c0036t0001g0005	1	2	0.5000	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGAGGGGCCGACCCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(291): Show GGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAG GGGTGCCGACCGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0007 a0009c0008t0001g0007	1	2	0.5000	298	c.124 others(319): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCTGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGACGGCTGGCCGGGCAGGGGTGCCGACCGCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar

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