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
CADPS2_chr7_122313411_122891460	122484490	T T	TAAAAATT others(597): Show TAAAAATTAACTGAACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTCCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAA TGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAG TTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAG TAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAG GTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACA CTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAGTATAATAAAAAAAAAATAATAATAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	117	0.0085	604	c.185 others(623): Show c.1853-3631_1853-3630insTTTTTTTTTTTTTTTTTTTTTTATTA TTATTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTTCAGTTAATTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	11/29			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(597): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCC TCACCCGCCAGAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTC CTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGC TCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCT GCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCAT CCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTCAC CTTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCC CCTCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0260 a0001c0009t0002g0260	1	229	0.0044	604	c.411 others(621): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGAGCTGTGGCA GGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTG AGCTGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCC GTGGCAGGTGAGGGGACAGGAAGGTGAGCCGTGGCAGGTGAGGATGGGAA GGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAG GATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCA CGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293509	C C	CTCACCTT others(597): Show CTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCT CACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCA CCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCAG AGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCA CCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGCTCACCTTCCTG TCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGCCCA CCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCC ACGGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCC CTCGCCTGCCACAGCCCACCTTCCTGTCCCCTACGCCTGCCACAGCTCAC CTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGC CACAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0080 a0001c0009t0002g0080	1	273	0.0037	604	c.411 others(621): Show c.4112+663_4112+664insCTGTGGCAGGCGAGGGGGCAGGAAGGTG GGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGTAGGGG ACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGC AGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGG GCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGATGG GAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGAGCCGTGGCAGGT GAGGATGGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTG TGGCAGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TCTGGCGGGTGAGGATGGGAAGGTGA	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(597): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCC CCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	12	0.0833	604	c.-45 others(625): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTC CCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939829	A A	AAAGAAAG others(597): Show AAAGAAAGAAAAAGAAGAAAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGGAAAAAGAAGA AAGAAAGAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAAAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAGAAAG AAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAGAAAGAAGAAAGA AAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAA GAAAGAGAAAGAAAGAGGAAAGAAAGAGAAAGAAAGAGAAAGAAAAGAAA GAGAAAGAAAGAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	256	0.0039	604	c.403 others(619): Show c.403-634_403-633insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTCTT TCTTTCTTTCTCTTCTTTCTTTCTCTTTCTTTTCTTTCTCTTTCTTTCTC TTTCTTTCCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTCTTTCTTTTTCTTTTCT TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTCTTTCTTTCTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTTTTCCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTCTCTTTCTTTCTTCTTTTTCCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTCTTTCTTTCTTTC TTCTTTTTCTTCTTTTTCTTTCTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CLPTM1L_chr5_1312752_1350099	1326444	T T	TCATCCAG others(597): Show TCATCCAGCTCCTCCTCTACGGGGACATTCCATCCAGCTCCTCCTCTACG GGGACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCT CCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTTCATC CAGCTCCTCCTCTACGGGGACATTCCATCCAGCTCCTCCTCTACGGGGAC ATTCCATCCAGCTCCTCCTCTACGGGGACATTTCATCCAGCTCCTCCTCT ACAGGGACAATCCATCCAGCTCCTCCTCTACAGGGACATTTCATCCAGCT CCTCCCCTACAGGGACATTTCATCCAGCTCCTCCTCGACAGACACATTTC ATCCAGCTCCTCCTCGACAGACACATTTCATCCAGCTCCTCCTCTACGGA CACATTTCATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCC TCTACGGACACATTCCATCCAGCTCCTCCTCGACAGGGACATTTCATCCA GCTCCTCCTCTACAGGGACATTCCACCCAGCTCCTCCTCTACAGGGACAT TCCACCCAGCTCCTCCTCGACAGGGACATTCCACCCAGCTCCTCCTCGAC AGACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01884.hp2 others(5): Show HG00140.hp2 HG01261.hp1 HG01884.hp2 HG02258.hp1 HG02523.hp1 HG03139.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0284	8	367	0.0218	604	c.108 others(621): Show c.1081-629_1081-628insTGTCTGTCGAGGAGGAGCTGGGTGGAAT GTCCCTGTCGAGGAGGAGCTGGGTGGAATGTCCCTGTAGAGGAGGAGCTG GGTGGAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTCCCTGTCGAGG AGGAGCTGGATGGAATGTGTCCGTAGAGGAGGAGCTGGATGAAATGTGTC CGTAGAGGAGGAGCTGGATGAAATGTGTCCGTAGAGGAGGAGCTGGATGA AATGTGTCTGTCGAGGAGGAGCTGGATGAAATGTGTCTGTCGAGGAGGAG CTGGATGAAATGTCCCTGTAGGGGAGGAGCTGGATGAAATGTCCCTGTAG AGGAGGAGCTGGATGGATTGTCCCTGTAGAGGAGGAGCTGGATGAAATGT CCCCGTAGAGGAGGAGCTGGATGGAATGTCCCCGTAGAGGAGGAGCTGGA TGGAATGTCCCCGTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAG GAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCTG TAGAGGAGGAGCTGGATGGAATGTCCCCGTAGAGGAGGAGCTGGATGGAA TGTCCCCGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19012.hp2 NA19081.hp2 HG00408.hp1 NA19012.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0175 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0175	3	202	0.0149	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCAAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01891.hp1 others(6): Show HG01109.hp2 HG01433.hp2 HG01891.hp1 HG02622.hp1 HG02897.hp1 HG03195.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0296	9	208	0.0433	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCAAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT TACATGGTGTAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02683.hp2 HG02258.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0139 a0001c0001t0001g0144	2	201	0.0100	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTTACATGGTGTAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATTCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02809.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG02809.hp2 HG02970.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0244 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250	5	204	0.0245	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATTCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCTAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19077.hp2 NA18977.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0215 a0001c0002t0001g0196 a0001c0002t0001g0215	2	201	0.0100	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCTAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACGGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(597): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCT CAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTA ATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTG CTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAG ACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCG TGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCAC TGAAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	200	0.0050	604	c.123 others(623): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTTGCCCAGGCTGGAGTG CAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACC ATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCAC CACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTA TCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(597): Show CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACA GCCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCA GGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCAC CCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGAT CCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCA CCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCC GAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACC CACCCCTCCCACAGCCAGATCCCAGGACGGCACCCACCCACCCCTCCCAC AGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCC ACCCA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp2 HG02004.hp2 others(3): Show HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 NA18747.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 a0001c0008t0001	a0001c0001t0001g0022 a0001c0001t0003g0008 a0001c0001t0005g0023 others(3): Show a0001c0001t0001g0022 a0001c0001t0003g0008 a0001c0001t0005g0023 a0001c0003t0002g0021 a0001c0008t0001g0017 a0001c0008t0001g0018	6	78	0.0769	604	c.86- others(621): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTG GGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGT GGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGG TGGGTGGGTGCCGTCCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGC TGTCCTGGGATCCGGCTGTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	600442	A A	AGATGCTC others(597): Show AGATGCTCCGGAGCCACCCGACAGCCCCTTCCACCTTAAAGAGGACGGCC CAGGGTGTTCGGATGCTCCGGAGCCACCCGACAGCCCTTTCCACCTTAAA GACGACGGCCCAGGGTGTTCGGATGCTCCGGAGCGACCCCACAGCCCTGT CCACCTTAAAGAGGACGGCCCAGGGTGTTCGGATGCTCCGGAGCCACCCG ACAGCCCTTTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCG GAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTG CGGATGCTCCGGAGCCACCCGACAGCCCTTTCCACCTTAAAGAGGACGGC CCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCCCTGTCCACCTTA AAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCCC TGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGAC CCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGC TCCGGAGCCACCCGACAGCCCTTTCCACCTTAAAGAGGACGGCCCAGGGT GTGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01952.hp2 others(9): Show HG00597.hp2 HG01099.hp2 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02809.hp2 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18962.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0019t0006	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0004g0019 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0019t0006g0009	12	84	0.1429	604	c.85+ others(621): Show c.85+89051_85+89052insCGCACACCCTGGGCCGTCCTCTTTAAGG TGGAAAGGGCTGTCGGGTGGCTCCGGAGCATCCGCACACCCTGGGCCGTC CTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACAC CCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAG CATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGG TCGCTCCGGAGCATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGAAAG GGCTGTCGGGTGGCTCCGGAGCATCCGCACACCCTGGGCCGTCCTCTTTA AGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGGC CGTCCTCTTTAAGGTGGAAAGGGCTGTCGGGTGGCTCCGGAGCATCCGAA CACCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTGTGGGGTCGCTCCGG AGCATCCGAACACCCTGGGCCGTCGTCTTTAAGGTGGAAAGGGCTGTCGG GTGGCTCCGGAGCATCCGAACACCCTGGGCCGTCCTCTTTAAGGTGGAAG GGGCTGTCGGGTGGCTCCGGAGCATC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015854	A A	ATATATTT others(597): Show ATATATTTCTATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATTTCTATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATTTCTATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATTTCTATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT ATGATATATATATCATATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATAATATATATGATATATATATCATATATTTCTATATATGATATA TATAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	205	0.0049	604	c.316 others(623): Show c.316-48589_316-48588insTTCTATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATTTCTATATATGATATATATA TCATATATTTCTATATATGATATATATATCATATATTTCTATATATGATA TATATATCATATATTTCTATATATGATATATATATCATATATTTCTATAT ATGATATATATATCATATATTTCTATATATGATATATATATCATATATAT GATATATATATCATATATTTCTATATATGATATATATATCATATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATATGATA TATATATCATATATTTCTATATATGATATATATATCATATATATGATATA TATATCATATATTTCTATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATATGATATATATA TCATATATTTCTATATATGATATATATATCATATATATGATATATATATC ATATATTTCTATATATGATATATATAATATATATGATATATATATCATAT ATTTCTATATATGATATATATAATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634604	C C	CCCTTTCC others(597): Show CCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCT TTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCCTTCTCCTTTCCCCTT CCTTCCCTTTCCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	198	0.0051	604	c.105 others(621): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634987	T T	TCCTTTCC others(597): Show TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	243	0.0041	604	c.105 others(619): Show c.105-890_105-889insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154779067	T T	TCACCTCC others(597): Show TCACCTCCACAACCTCTACCACCACCACCACCACCATCACCTCCACCACC ACCACCACAACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCAC CACCACCATCACTTCCACCACCACCACCACAACTACCCCCACCATCACCT CCATCACCTCCACAACCTCTACCACCACCACCACCATCATCACCTCCACC ACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCACC ACCATCACCCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCA TCACCTCCATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACC TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCA ACCCATCATCACCACCTCCACCACCACCACCATCACCCCCACCGTCACCT CCACCACCACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACC ACCACCAGCACCACTATCACCACTATCACCACCACCCCCACCATCACCTC CACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	37	0.0270	604	c.113 others(623): Show c.1136+6133_1136+6134insCAACCTCTACCACCACCACCACCACC ATCACCTCCACCACCACCACCACAACCACCCCCACCATCACCTCCAAAAC CTCCACCACCAGCACCACCACCATCACTTCCACCACCACCACCACAACTA CCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACCACCACC ACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACCGCCAGC ATCACCACCATCACCTCCACCACCACCACCACAACTACCCCCACCATCAC CTCCATCACCTCCACAACCACCACCACCATCATCACCTCCACCACCATCA CCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCA CCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCTACC ACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACCACCAC CCCCACCATCACCTCCACACCACCTCCA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(597): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCT GCCCACCCTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATC CTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACC CGACCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTC CTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGC ATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCA GGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAC CCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCAACCTCCA CCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACC CTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0077 a0001c0016t0001g0077	1	181	0.0055	604	c.14 others(615): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGAT GCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGA AGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCG GGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTTGGGTGGA GGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGG CAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(597): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCT CCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTGC ATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCA GGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAC CCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCAACCTCCA CCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACC CTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	181	0.0055	604	c.14 others(615): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGTGGGCA GGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCC TGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGAT GCGGAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGG AGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTT GGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGA GGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGG CAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(597): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGTGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp1 NA18954.hp2 others(4): Show NA18945.hp2 NA18948.hp1 NA18954.hp2 NA18968.hp2 NA19057.hp1 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0002t0018	a0001c0001t0002g0245 a0001c0001t0010g0020 a0001c0001t0018g0153 others(4): Show a0001c0001t0002g0245 a0001c0001t0010g0020 a0001c0001t0018g0153 a0001c0001t0023g0155 a0001c0002t0001g0216 a0001c0002t0001g0243 a0001c0002t0018g0154	7	71	0.0986	604	c.62- others(621): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGTGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FBXO47_chr17_38931432_38972403	38946628	A A	AAATAAAA others(597): Show AAATAAAAATATATAAAAATATATACATATATAAATATAAATATATAATA TATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATA TAAAAATATATAAATATATAAAAATATATAAATATATAAAAATATATATA AATATATAAATATATAAATATATATAAATATATAAATATATAAAAATATA TAAATATATAAATATATAAAAATATATAAATACATAAATATATAAATATA TAAATATATATACATAAATATATAAATATATAAATATATAAATATATAAA TACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAA AAATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAA AAATATATACACATATAAATATATATAAAAATATATAAATATATATAAAA ATATATAAATATATATTATATATAAATATATAATATATAAATATATATAA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	323	0.0031	604	c.617 others(621): Show c.617-1493_617-1492insATATATTTATATATATTTATATATTGTA TATATTTATATATATTTATATATTGTATATATTTATATATATTTATATAT TGTATATATTTATATATATTTATATATTTATATATATTTATATATTATAT ATTTATATATAATATATATTTATATATTTTTATATATATTTATATATTTT TATATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTTAT ATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATATTATAT ATATTTTATATTTATATATATTATGTATTTATATATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATATTTATATATTTATGTATTT ATATATTTTTATATATTTATATATTTATATATTTTTATATATTTATATAT TTATATATATTTATATATTTATATATTTATATATATTTTTATATATTTAT ATATTTTTATATATTTATATATTTTTATATATTTATATATTTTTATATAT TTATATTTATATATTTATATATTTATATATTATATATTTATATTTATATA TGTATATATTTTTATATATTTTTATT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(597): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAATATATATTTATATACATATAAATATATAT ATTTATATATATTTATATATATATAAATATATATATATTTGTATATATAT AAATATATATATATTTATATATATATAAATATATATATATTTATATATAT ATACATATAAATATATATTTATATACATATAAATATATAATTATATACAT ATAAATATATAATTATATACATATAAATATATATAATTATATACATATAA ATATATATTTATATACATATAAATTTATATACATATAAATATAAATATTT ATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0041 a0002c0008t0002g0041	1	28	0.0357	604	c.49 others(615): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTAT ATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT TTATATGTATATAAATATATATATTTATATGTATATAAATATATATATTT ATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(597): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGACGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGA GAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGAC GTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGA GGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTG GAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAG AAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAGATTTTTA GAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0205 a0003c0004t0001g0205	1	351	0.0028	604	c.831 others(621): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAG ATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCT CTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTT CTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(597): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGATGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGT TGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGG GGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGA AGGGGTGTGGGATGCGATTGAGGGAGGGGGAATGGAGGTTGGGGGGAAGG GGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCG GTTGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02257.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0074 a0001c0001t0073 a0001c0001t0074	a0001c0001t0073g0251 a0001c0001t0074g0243 a0001c0001t0073g0251 a0001c0001t0074g0243	2	131	0.0153	604	c.684 others(617): Show c.684+66_684+67insGAAAGGGTGTGGGATGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGG GTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTG TGGGATGCGATTGAGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGG GGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTG GGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(597): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGAGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGA TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0026 a0001c0002t0026g0027 a0001c0002t0026g0026 a0001c0002t0026g0027	2	131	0.0153	604	c.684 others(617): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGAGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(597): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGAGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGA TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0114 a0001c0002t0062g0114	1	130	0.0077	604	c.684 others(617): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGAGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(597): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGA TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00639.hp1 others(53): Show HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp1 HG02698.hp2 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03471.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18952.hp2 NA18964.hp2 NA18969.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19074.hp2 NA19090.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0016 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0033 a0001c0001t0037 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0002t0045 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0003t0064 a0001c0013t0047 a0001c0016t0023 a0002c0014t0005	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0256 others(53): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0256 a0001c0001t0002g0231 a0001c0001t0003g0122 a0001c0001t0004g0072 a0001c0001t0004g0145 a0001c0001t0006g0010 a0001c0001t0006g0044 a0001c0001t0033g0192 a0001c0001t0037g0215 a0001c0002t0005g0004 a0001c0002t0005g0049 a0001c0002t0005g0056 a0001c0002t0005g0063 a0001c0002t0005g0099 a0001c0002t0005g0103 a0001c0002t0005g0162 a0001c0002t0010g0048 a0001c0002t0010g0110 a0001c0002t0010g0129 a0001c0002t0010g0137 a0001c0002t0010g0270 a0001c0002t0014g0069 a0001c0002t0014g0107 a0001c0002t0014g0179 a0001c0002t0021g0172 a0001c0002t0021g0198 a0001c0002t0021g0257 a0001c0002t0022g0076 a0001c0002t0022g0100 a0001c0002t0022g0164 a0001c0002t0023g0068 a0001c0002t0023g0176 a0001c0002t0024g0140 a0001c0002t0025g0136 a0001c0002t0025g0168 a0001c0002t0025g0175 a0001c0002t0028g0132 a0001c0002t0045g0193 a0001c0002t0046g0265 a0001c0002t0048g0109 a0001c0002t0049g0085 a0001c0002t0051g0189 a0001c0002t0052g0135 a0001c0002t0053g0071 a0001c0002t0054g0104 a0001c0002t0055g0194 a0001c0002t0056g0064 a0001c0002t0057g0120 a0001c0002t0058g0096 a0001c0002t0059g0080 a0001c0003t0064g0250 a0001c0013t0047g0029 a0001c0016t0023g0143 a0002c0014t0005g0235	56	185	0.3027	604	c.684 others(617): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(597): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGTTGGGTGGAT GGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGGATGG ATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGATGGAT GGATGGGTGGATGGACGGATGGATGGATGGGTGGACAGATGGATGGGTGG GTTGATGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGGT GGATGGATGGATGGATGGGTGGATGGATGGAGGGGTGGATGGATGGATGG ATGGGTGGGTGGATGAATGGGTGGTTGGATGGATGGATGGATGGATGGGT GGATGGGTAGATGGATGGATGGGTGGGTGGATGGATGGGTGGGTGGATGG ATGGCTGGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGCT GGGTGGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGG ATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGAT GGGTGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGATGG ATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02622.hp2 others(1): Show HG02257.hp1 HG02559.hp2 HG02622.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0001c0002t0004 a0002c0001t0001	a0001c0002t0004g0042 a0001c0002t0004g0067 a0001c0002t0004g0089 others(1): Show a0001c0002t0004g0042 a0001c0002t0004g0067 a0001c0002t0004g0089 a0002c0001t0001g0055	4	57	0.0702	604	c.80 others(615): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCACCCATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCA TCCACCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCACCCACC CATCCATCCATCTACCCATCCACCCATCCATCCATCCATCCATCCAACCA CCCATTCATCCACCCACCCATCCATCCATCCATCCACCCCTCCATCCATC CACCCATCCATCCATCCATCCACCCATCCACCCATCCATCCATCCATCCA TCCACCCATCCATCCATCAACCCACCCATCCATCTGTCCACCCATCCATC CATCCGTCCATCCACCCATCCATCCATCCACCCATCCATCCATCCATCCA CCCATTCATCCATCCACCGATCCATCCGTCCACCCACCCATCCATCCATC CATCCATCCACCGATCCATCCATCCACCCAACCATCCATCCATCCATCCA TCGATCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(597): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02647.hp2 HG01884.hp1 HG02145.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0028 a0001c0003t0027g0173 a0001c0003t0027g0174 a0001c0003t0027g0028 a0001c0003t0027g0173 a0001c0003t0027g0174	3	79	0.0380	604	c.968 others(619): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACC TGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTG TGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932722	A A	ACAGACAG others(597): Show ACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCA GGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGC AGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGA CACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGC CAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGA GCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACATACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0130 a0001c0003t0130	a0001c0003t0130g0180 a0001c0003t0130g0180	1	359	0.0028	604	c.968 others(619): Show c.968-510_968-509insCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTATGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTC TGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCAC CTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTG	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(597): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTC TCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCC CCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCT CCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCC TCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCAT CCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTC TCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCC CCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0035 a0002c0004t0003g0035	1	56	0.0179	604	c.11 others(625): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTC TCTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCC CTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCC CCTCCTCCTCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCAT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(597): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCC CACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCC CAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCC CCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCAC CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	5	0.2000	604	c.-41 others(619): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGC CCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCA CCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTTATATA others(597): Show TTTATATATATTTATATATATTTTATATATATTTATATATATATAAATTT TTTTTATATTTATATATTTTTTATATATTTATATATATACTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATTTATATATTTATGT ATATATTTATATATATTTATATATTTATGTATATATTTATATATATTTAT ATATTTATGTATATATATATATTTATATGTATTTATATATATTTATATGT ATTTATATATATTTATATATTTATATGTATTTATACATATATATTTATAT GTATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19068.hp1 NA19000.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	241	0.0083	604	c.125 others(621): Show c.125+9451_125+9452insTATATATATTTATATATATTTTATATAT ATTTATATATATATAAATTTTTTTTATATTTATATATTTTTTATATATTT ATATATATACTACATATATTTTTATATTTTATATATATTTATATATTTTA TATATTTATATATTTTTTATATATTTATATATTTATATATATATTTATAT ATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTTAT ATATATTTATATATTTATGTATATATTTATATATATTTATATATTTATGT ATATATTTATATATATTTATATATTTATGTATATATATATATTTATATGT ATTTATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATATTATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(597): Show ATATATATTTTTATATATATTTATATATATTTTTATATATATTTATATAT ATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATGTAT TTATATATATTTATATATGTATTTATATATATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATATATATAAATATATTTAT ATATATAAATATAAATATTTATATATATTTATATATATTTATATATATAT TTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATAT GTATT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	80	0.0125	604	c.125 others(621): Show c.125+9673_125+9674insATATTTTTATATATATTTATATATATTT TTATATATATTTATATATATTTATATATAGTTATATATATTTATGTATAG TTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAT AGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATGTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(597): Show ATATATATTTTTATATATATTTATATATATTTTTATATATATTTATATAT ATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT TTATATATATTTATATATGTATTTATATATATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATATATATAAATATATTTAT ATATATAAATATAAATATTTATATATATTTATATATATTTATATATATAT TTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATAT GTATT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	80	0.0125	604	c.125 others(621): Show c.125+9673_125+9674insATATTTTTATATATATTTATATATATTT TTATATATATTTATATATATTTATATATAGTTATATATATTTATGTATAG TTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAT AGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189701	G G	GAGGAAGG others(597): Show GAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAA GGAAGGAAGGGAGGAAGAAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAA GGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAGGAA GGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG AAGGGAGGAAGAAAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG GAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0060 a0001c0001t0035g0060	1	31	0.0323	604	c.-36 others(625): Show c.-36+105506_-36+105507insTCTTCCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTT CTTCCTCCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTTTCTTCCTCC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCT CCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	859581	G G	GATGTCAC others(597): Show GATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGAGACGG GTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCTCGGGA CGGTTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0022 a0022	a0022c0063 a0022c0063	a0022c0063t0001 a0022c0063t0001	a0022c0063t0001g0186 a0022c0063t0001g0186	1	292	0.0034	604	c.153 others(623): Show c.1530-4876_1530-4875insGACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCAGTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAGTG CACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACAT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(597): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATATTATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTAAACATATTATATAATATATAA TTATATTAAACATATTATATAATATATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATCTATAATTATATTATATATTATA TAATCTATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATAATACATTTAATATAATTAT ATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATA TAATATATTATATATAATTATATTATAACTTATTATATATAATTATATTA TAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATAAT TATATTCTATATATAATTATATATAATATAATTATATTCTATATATAATA TAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	604	c.-32 others(615): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATTATATAATATGTTTAATATAA TTATATATTATATAATATGTTTAATATAATTATATATAATATAATTATAT TATATATTATATTATAATTATATAATATATAATATAATTATATAATATAT AATTATATTCTATATAGAATATAATTATATATTATATAATTATATTATAT ATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(597): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGG CGCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0030 a0021c0030t0030	a0021c0030t0030g0267 a0021c0030t0030g0267	1	32	0.0313	604	c.218 others(619): Show c.2189-97_2189-96insAGGCGCCGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGT GCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGG GCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGA GCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG TGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCA CACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(597): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCC GCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGTGCCTTACATGGGCTCCTGGCGAGTGTGCCCCC CGCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0110 a0002c0110	a0002c0110t0011 a0002c0110t0011	a0002c0110t0011g0253 a0002c0110t0011g0253	1	32	0.0313	604	c.218 others(619): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTAAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGG GCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACAGGGGGCA CACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCA CCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACC CATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCA TCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	191	0.0052	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAG GTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGAT GGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGG GTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGAT GGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02258.hp1 NA18943.hp1 others(4): Show HG00140.hp1 HG02258.hp1 NA18943.hp1 NA18947.hp2 NA18990.hp1 NA19009.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0006 a0001c0001t0002g0209 a0001c0002t0004g0003 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0209 a0001c0002t0004g0003 a0001c0002t0004g0013 a0001c0002t0004g0024 a0001c0002t0004g0056 a0001c0002t0004g0208	7	197	0.0355	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGA GTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGC AGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGG ATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGA GGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(597): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCA CCTGTCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATC CATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCA CCTGCCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCA TCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18942.hp1 NA18986.hp1 NA18940.hp2 NA18942.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0025 a0001c0001 a0001c0012 a0001c0025	a0001c0001t0004 a0001c0012t0004 a0001c0025t0022 a0001c0001t0004 a0001c0012t0004 a0001c0025t0022	a0001c0001t0004g0118 a0001c0012t0004g0114 a0001c0025t0022g0049 a0001c0001t0004g0118 a0001c0012t0004g0114 a0001c0025t0022g0049	3	193	0.0155	604	c.55 others(615): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar

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