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
SLC6A3_chr5_1387794_1450440	1422600	A A	ACGGTGCT others(219): Show ACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGT ACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCC AGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 NA18522.hp2 HG02258.hp1 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0010 a0001c0009t0005g0021 a0001c0009t0005g0042 a0001c0009t0005g0010 a0001c0009t0005g0021 a0001c0009t0005g0042	3	373	0.0080	226	c.654 others(241): Show c.654-587_654-586insCGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACC CAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(219): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATAAATATATATATATTTATATATATA TAAATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0075 a0001c0001t0123g0075	1	236	0.0042	226	c.180 others(247): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATATTTATATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATAAATATATATATATATTTATATATATATATAAATATATATATAT AT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200196	A A	ATATATAA others(219): Show ATATATAAATATATATATATATTTATATATATAAATATATATTTATATAT ATAAATATATATATATTTATATATATAAATATATATATATTTATATATAT AAATATATATTTATATATATAAATATATATATATTTATATATATAAATAT ATATTTATATATATAAATATATATATATATTTATATATATAAATATATAT TTATATATATAAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0168 a0001c0001t0169g0168	1	236	0.0042	226	c.180 others(247): Show c.1809-21704_1809-21703insAATATATATATATATTTATATATA TAAATATATATTTATATATATAAATATATATATATATTTATATATATAAA TATATATTTATATATATAAATATATATATATTTATATATATAAATATATA TTTATATATATAAATATATATATATTTATATATATAAATATATATATATT TATATATATAAATATATATTTATATATATAAATATATATATATATTTATA TA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO3A1_chr15_91848708_92170903	92143383	A A	ATAAAATA others(219): Show ATAAAATATATATATTATATATAATATATGTAATATTATATATAATATAT ATATAATATATAATATATATAATATATATATAATATATATTATATATAAT ATATATAATATATAATATATATATTATATATAATATATATATTATATATA ATATATATTATATATATTATATTATATATAATATATATAATATATATATA TTATATATTATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0002g0112 a0001c0001t0001g0038 a0001c0001t0002g0112	2	190	0.0105	226	c.151 others(245): Show c.1513-3601_1513-3600insTAAAATATATATATTATATATAATAT ATGTAATATTATATATAATATATATATAATATATAATATATATAATATAT ATATAATATATATTATATATAATATATATAATATATAATATATATATTAT ATATAATATATATATTATATATAATATATATTATATATATTATATTATAT ATAATATATATAATATATATATATTATATATTATATATAATATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMYD3_chr1_245744347_246512279	246071783	G G	GTAGTTCT others(219): Show GTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACCGTGGATG CATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTCGCTGCATCCTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCC GCTGTGCTCACTGTGGATGCATCGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 HG02132.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0054 a0001c0001t0001g0059	2	150	0.0133	226	c.532 others(247): Show c.532-141847_532-141846insACACGATGCATCCACAGTGAGCAC AGCGGAAAGCACACGAATCCCTCCCCAGAACTACAGGATGCAGCGACAGT GAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCAT CCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTACACG ATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221465	G G	GTCTCTCT others(219): Show GTCTCTCTCTGTCTCTCTCTGTCTCTTTGTCCCTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCT CTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCT CTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCT CTGTCTCTCTCTGTCTCTGCCTCTGCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0054 a0004c0014t0001g0054	1	190	0.0053	226	c.719 others(245): Show c.719+12242_719+12243insCTGTCTCTCTCTGTCTCTTTGTCCCT CTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCT CTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCT GCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCA GTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343160	C C	CCCCCTGT others(219): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCACACTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	190	0.0053	226	c.148 others(247): Show c.1489-23966_1489-23965insCACACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343160	C C	CCCCTGTT others(219): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCACACTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	226	c.148 others(247): Show c.1489-24180_1489-24179insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTC CC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344746	C C	CCCCTGTT others(219): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	190	0.0053	226	c.148 others(247): Show c.1489-22594_1489-22593insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(219): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCA CCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCT CCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	226	c.54 others(237): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(219): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCA CCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCT CCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	226	c.54 others(237): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(219): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCA CCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCT CCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA19054.hp1 NA18960.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	418	0.0048	226	c.54 others(237): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPECC1L_chr22_24265831_24422738	24316957	A A	AGCTCCTC others(219): Show AGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGAGGGGGTGGCTGGCCGGGCGGTGGGGCTGACCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCTACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCAGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	326	0.0031	226	c.307 others(243): Show c.307+3542_307+3767dupTGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGTGGGG CTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(219): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	260	0.0039	226	c.138 others(245): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP68_chr17_76033785_76077517	76062684	A A	AATATATA others(219): Show AATATATAATATACATTATATATTATATAATATACATTATATATTATATA ATATATAATATACATTATATATTATATAATATACATTATATATTATATAA TATACATTATATATTATATAATATACATTATATATTATATAATATATAAT ATACATTATATATTATATAATATATAATATACATTATATATTATATAATA TATAATGTACATTATATATTATATAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	365	0.0027	226	c.562 others(243): Show c.562-1111_562-1110insATTATATAATATATAATGTACATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATATTATATAATATATAATGTATATTATATAATATATAATGTATAT TATATAATATATAATGTATATTATATAATATATAATGTATATTATATATT ATATAATATATAATGTATATTATATAATATATAATGTATATTATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SWAP70_chr11_9659077_9757993	9706284	T T	TACTTGGT others(219): Show TACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTG TATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATC TGTGTACACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTG ATCTGTATACACTGGTGATCTGTGTAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	294	0.0034	226	c.241 others(243): Show c.241-7094_241-7093insCTGGTGATCTGTATACACTGGTGATCTG TGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTACACTTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTG ATCTGTGTACACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGG TGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(219): Show TATGTGTATATATACATATATACATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTATA TATAACACATATATACACCTATGTGTATATATAACACATATATACACCTA TGTGTATATATAACACATATATACACCTATGTGTATATATACATATATAC ATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0372 a0001c0005t0006g0372	1	376	0.0027	226	c.158 others(245): Show c.1582-2863_1582-2862insGTGTATATATACATATATACATATAC ACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTATA TATAACACATATATACACCTATGTGTATATATAACACATATATACACCTA TGTGTATATATACATATATACATATACACATATGTGTATATATAACACAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAFA5_chr22_48484553_48756932	48620941	C C	CACCCTAT others(219): Show CACCCTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACA CACCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCAC CCACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTAT CCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCAC CTATCCTATTCATCCATCCCCCCACCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	258	0.0039	226	c.113 others(245): Show c.113-25638_113-25637insCCCACACACCCACACTATCCACCCAC CCACACACCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCA TCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCA CCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCA CCCACCTATCCTATTCATCCATCCCCCCACCTACCCTATCTATCCACCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412193	C C	CCCTTCCC others(219): Show CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTC CTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	268	0.0037	226	c.186 others(243): Show c.186-2238_186-2237insTTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(219): Show CCACACATCAGACCCCCGTGACCGATCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCCATGACCAACCACCATCTAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	392	0.0026	226	c.228 others(243): Show c.2287-294_2287-293insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGATCGGTCACGGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124208	A A	ATAATACA others(219): Show ATAATACACATTATATATTATATATAATACATAATACACATTATATATTA TATATAATACACATTATATATAATATATAACACACATTATATATAATATA TAACACACATTATATATTATATATAATACACATTATATATTATATATAAT ACACATATATTATATATAATACACATTATATATTATATATAATACACATA TATTATATATAATACACATTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02717.hp1 others(11): Show HG01261.hp1 HG02055.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp2 NA18966.hp2 NA18977.hp1 NA19000.hp1 NA19011.hp1 NA19068.hp1 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0010 a0001c0004t0021 a0001c0004t0004 a0001c0004t0010 a0001c0004t0021	a0001c0004t0004g0007 a0001c0004t0004g0031 a0001c0004t0004g0137 others(8): Show a0001c0004t0004g0007 a0001c0004t0004g0031 a0001c0004t0004g0137 a0001c0004t0004g0146 a0001c0004t0004g0195 a0001c0004t0004g0243 a0001c0004t0004g0301 a0001c0004t0010g0305 a0001c0004t0010g0306 a0001c0004t0010g0307 a0001c0004t0021g0311	14	360	0.0389	226	c.60 others(237): Show c.6010_*6011insAATATATAATGTGTATTATATATAATATATGTGT ATTATATATAATATATAATGTGTATTATATATAATATATGTGTATTATAT ATAATATATAATGTGTATTATATATAATATATAATGTGTGTTATATATTA TATATAATGTGTGTTATATATTATATATAATGTGTATTATATATAATATA TAATGTGTATTATGTATTATATATAATATATAATGTGTATTA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3176		chr20	TogoVar
TH_chr11_2158929_2176815	2161903	A A	ACACCCCT others(219): Show ACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTATCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCC GGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCACACCCCTGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	388	0.0026	226	c.23 others(237): Show c.2329_*2330insGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAT AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGATAGGGGTCTGGGGACAGGGGTCCTGGGGACAGGGGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2025		chr11	TogoVar
TMC2_chr20_2531573_2648580	2555336	C C	CTCCCAAA others(219): Show CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCCGGCCTTTCT CTTTGCAGTTCTATTATGTTTTTGCCTCATGTATTTTGGCATTCTGTTGT TAGGTGCATACACTTGAAGTATTGTTACATCTTCTTGGAGAATTGACCCT TCTGTAATGCCCCTTCTTTTTATTGTTTATTTTTCGGTCTTAAACTCCTG GGCTCAAGCGATCTGTCTGCCTCTGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	344	0.0029	226	c.83- others(241): Show c.83-3086_83-3085insGAGCCCGGCCTTTCTCTTTGCAGTTCTATT ATGTTTTTGCCTCATGTATTTTGGCATTCTGTTGTTAGGTGCATACACTT GAAGTATTGTTACATCTTCTTGGAGAATTGACCCTTCTGTAATGCCCCTT CTTTTTATTGTTTATTTTTCGGTCTTAAACTCCTGGGCTCAAGCGATCTG TCTGCCTCTGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACC	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747693	G G	GCTGGGGT others(219): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0031	1	314	0.0032	226	c.189 others(241): Show c.189-560_189-559insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134609049	A A	ACTGGTGA others(219): Show ACTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTG GTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGA AAAGGATGACAGACCCCGAGAACTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	222	0.0045	226	c.323 others(245): Show c.323-56959_323-56958insCACAGTTCTCGGGGTCTGTCATCCTT TTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCG GGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCA CCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGT CTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAG	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112115269	T T	TGTAGCAT others(219): Show TGTAGCATTACAGAAAGATTCATAACTACAGAAAGATGGAGCATTACAGA AAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA CGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	316	0.0032	226	c.160 others(243): Show c.1609-789_1609-788insACAGAAAGATGGAGCATTACAGAAAGAT TCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTAC AGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGACGTAG CATTACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACAGAAAG ATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112115269	T T	TGTAGCAT others(219): Show TGTAGCATTACAGAAAGATTCATAACTACAGAAAGATGTAGCATTACAGA AAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0286 a0001c0001t0013g0286	1	316	0.0032	226	c.160 others(243): Show c.1609-789_1609-788insACAGAAAGATGTAGCATTACAGAAAGAT TCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTAC AGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAG CATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAG ATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMTC2_chr12_82681906_83139866	82876048	G G	GTGGTGGT others(219): Show GTGGTGGTGGTGGTGATGGTGATGGTGATTAGTATTCATAATGGTGGTGG TGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGATGATGATGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGG TGGTGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATTAGTATTCATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	96	0.0104	226	c.654 others(245): Show c.654+18482_654+18483insATGGTGATGGTGATTAGTATTCATAA TGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTG GTGGTGGTAGTGGTGATGATGATGATGGTGATTAGTATTCATAATGGTGG TGGTGGTGGTGGTGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATTAGTATTCATAATGGTGGTGGTGGTG	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134787	A A	AGGAGAGC others(219): Show AGGAGAGCGGAGAAGAGGGGAGGAGAGGGGAGGGCAGAAGACGGGAGGGG AGAAGAGGGGAGGAGAGGGGATGGGAAAATAGGGGAGGGGAGGGGAGGAG AGGGGAGGAGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAAAGGGG AGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAAAGGGGAGGAAAGGGG AGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	320	0.0031	226	c.612 others(241): Show c.612-584_612-583insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTC CTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCC CTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TPO_chr2_1408463_1548673	1537091	G G	GCCCCAAT others(219): Show GCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCCCC CAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAAAC CTCCCCAAATCCCCCCCACTGTGTGCAACCTCCCCAATTCCCCACCACTG TGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCCCC CACAGTTTGAAACCTCCCCAAATCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG02451.hp1 others(6): Show HG01071.hp2 HG01167.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0026 others(3): Show a0001c0001 a0002c0002 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(4): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0128 a0002c0002t0003g0063 a0002c0002t0003g0074 others(6): Show a0001c0001t0003g0128 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0006g0027 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	9	130	0.0692	226	c.261 others(245): Show c.2619-3503_2619-3502insCCCCAATCTGTGCAACCTCCCACTCT ACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCTC CTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGCA ACCTCCCCAATTCCCCACCACTGTGTGCAACCTCCTCAAATCCCCCCACT GTGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1537091	G G	GCCCCAAT others(219): Show GCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCCCC CAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAAAC CTCCCCAAATCCCCCCCACTGTGTGCAACCTCCCCAATTCCCCACCACTG TGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCCCC CCCAGTTTGAAACCTCCCCAAATCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01928.hp1 HG01928.hp2 others(4): Show HG01069.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 a0001c0001t0003 a0002c0002t0003 a0002c0015t0003	a0001c0001t0003g0077 a0002c0002t0003g0056 a0002c0002t0003g0057 others(4): Show a0001c0001t0003g0077 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0015t0003g0111	7	130	0.0539	226	c.261 others(245): Show c.2619-3503_2619-3502insCCCCAATCTGTGCAACCTCCCACTCT ACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCTC CTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGCA ACCTCCCCAATTCCCCACCACTGTGTGCAACCTCCTCAAATCCCCCCACT GTGTGCAACCACCCCAAACCCCCCCCAGTTTGAAACCTCCCCAAATCCCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(219): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGG CTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGG GGAGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(116): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0008 a0007c0009 others(1): Show a0001c0001 a0001c0008 a0007c0009 a0008c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(44): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0096 a0001c0008t0001 a0001c0008t0015 a0007c0009t0065 a0007c0009t0066 a0007c0009t0067 a0008c0013t0042 a0008c0013t0073	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0010g0001 others(44): Show a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0014g0001 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0035g0001 a0001c0001t0036g0001 a0001c0001t0037g0001 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0046g0001 a0001c0001t0047g0017 a0001c0001t0048g0001 a0001c0001t0049g0001 a0001c0001t0051g0001 a0001c0001t0052g0001 a0001c0001t0053g0001 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0001t0056g0001 a0001c0001t0057g0001 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0062g0001 a0001c0001t0063g0001 a0001c0001t0064g0001 a0001c0001t0068g0001 a0001c0001t0069g0001 a0001c0001t0096g0001 a0001c0008t0001g0001 a0001c0008t0015g0001 a0007c0009t0065g0010 a0007c0009t0066g0010 a0007c0009t0067g0010 a0008c0013t0042g0020 a0008c0013t0073g0019	119	270	0.4407	226	c.-13 others(237): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGG GGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTG GGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1255055	T T	TGGGCTGG others(219): Show TGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGG CTGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATG GGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCT GGGACTAGTTCATGGGGAGCTGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	270	0.0037	226	c.-12 others(237): Show c.-1226_-1225insGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGG GGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCT GGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGG AGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTG	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1013		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258814	C C	CCCCCTCC others(219): Show CCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTT CTTGAGTCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTTGAGCCCCC CTCCCCCCACCCTGAGCCCCCTCCCTTTCTTGAGTCCCTCCTCCATCCTG AGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCT TTCTTGAGCCCCCTCCCCCACCCTGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	270	0.0037	226	c.46 others(235): Show c.463_*464insCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCCT CCCCCACCCTGAGCCCCTTCCCCTTTCTTTGAGCCCCCCTCCCCCCACCC TGAGCCCCCTCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCTTCCCC TTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCC CTCCCCCACCCTGAGCCCCTCCCCTTTCTTGAGCCCCTCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	464	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM48_chr11_55257155_55276114	55273203	A A	AATATATA others(219): Show AATATATATATAAAAATTATATATATTATATATATATAAATTATATATAT ATTATATATATATAAATTATATATATATTATATATATATAAATTATATAT ATATTATATATATAAATTATATATATATTATATATATAAAAATTATATAT ATAATATATATAAAAATTATATATATAATATATATAAAAATTATATATAT AATATATATAAAAATTATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18943.hp2 NA18966.hp1 others(4): Show NA18941.hp1 NA18943.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp2 NA19056.hp1 NA19082.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0005 a0000c0004t0006 a0000c0004t0005 a0000c0004t0006	a0000c0004t0005g0007 a0000c0004t0006g0007 a0000c0004t0005g0007 a0000c0004t0006g0007	7	272	0.0257	226	c.27 others(237): Show c.2768_*2769insATATATATATAAAAATTATATATATTATATATAT ATAAATTATATATATATTATATATATATAAATTATATATATATTATATAT ATATAAATTATATATATATTATATATATAAATTATATATATATTATATAT ATAAAAATTATATATATAATATATATAAAAATTATATATATAATATATAT AAAAATTATATATATAATATATATAAAAATTATATATATATT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2090		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273203	A A	AATATATA others(219): Show AATATATATATAAAAATTATATATATTATATATATATAAATTATATATAT ATTATATATATATAAATTATATATATATTATATATATATAAATTATATAT ATATTATATATATAAATTATATATATATTATATATATAAAAATTATATAT ATAATATATATAAAAATTATATATATAATATATATAAAAATTATATATAT AATATATATATAAATTATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0006 a0000c0004t0006	a0000c0004t0006g0007 a0000c0004t0006g0007	1	272	0.0037	226	c.27 others(237): Show c.2768_*2769insATATATATATAAAAATTATATATATTATATATAT ATAAATTATATATATATTATATATATATAAATTATATATATATTATATAT ATATAAATTATATATATATTATATATATAAATTATATATATATTATATAT ATAAAAATTATATATATAATATATATAAAAATTATATATATAATATATAT AAAAATTATATATATAATATATATATAAATTATATATATATT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2090		chr11	TogoVar
TRIM4_chr7_99885403_99924530	99887932	T T	TGGGGGGC others(219): Show TGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTACCTCC CTCCCGGACAGGGCGGCTGGCCGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	322	0.0031	226	c.42 others(237): Show c.4230_*4231insCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTA GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCC	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2470		chr7	TogoVar
TUBGCP2_chr10_133273635_133313872	133292034	T T	TCCATGTC others(219): Show TCCATGTCCCCCATGTCCCCGTGTCCCAGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCATGTCCCTCCAT GTCCCCCATGTCCCCGTGTCCCAGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTC CGTGTCCCCCGTGTCCCTCCGTGTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	284	0.0035	226	c.121 others(243): Show c.1214+464_1214+465insGGGACACGGAGGGACACGGGGGACACGG AGGGACACGGGGACACGGAGGGACATGGGGGACACGGACGGTGCATGCTG CCCTCTCCCGTACAGGTAGGGCTCCCTGGGACACGGGGACATGGGGGACA TGGAGGGACATGGAGGGACATGGGGGACACGGAGGGCGCGTGCTGCCCTC TCCCGTACAGGTAGGGCTCCCTGGGACACGGGGACATGGGGGACATGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23042153	T T	TAATAACC others(219): Show TAATAACCCCACCTAGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCT GGCCGGAGGTGCTGAGGGGCGGGGGGAACTTCATAACCCCACCCGGCCAG AGGTGCTGGGGGTGACTTCACAAATGTCACCTGGCCAGAGGTGCTGGGGG GATTTCATAACCTAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTC ACCTGGCCAGAGGCGCTAGGGGGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	351	0.0029	226	c.-26 others(237): Show c.-2611_-2610insCTATCCCCCTAGCGCCTCTGGCCAGGTGAGGTTA AGATGTCCCCCCAGCACCTCTGGCCAGGTTAGGTTATGAAATCCCCCCAG CACCTCTGGCCAGGTGACATTTGTGAAGTCACCCCCAGCACCTCTGGCCG GGTGGGGTTATGAAGTTCCCCCCGCCCCTCAGCACCTCCGGCCAGCTGGG GTTATGATGGCCCCACAGCACCTCTGGCTAGGTGGGGTTATT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2585		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870178	A A	ACACACAC others(219): Show ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	338	0.0030	226	c.35 others(245): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870442	A A	ACACCCCA others(219): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	338	0.0030	226	c.35 others(245): Show c.35+21712_*35+21713insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCTACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(219): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	320	0.0031	226	c.-38 others(237): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(219): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	320	0.0031	226	c.-38 others(237): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UVSSA_chr4_1342208_1393049	1372861	T T	TGCACTCA others(219): Show TGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCA CTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACC TCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCC GCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCT CAGGGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0221 a0003c0002t0002g0221	1	400	0.0025	226	c.128 others(245): Show c.1289-2460_1289-2459insAGGGCACTCACCTCCCGCGTCCCTGC ACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTC ACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCC CGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAV2_chr9_133756894_133997324	133827312	G G	GCTACCGC others(219): Show GCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCACCTA CCGCTGCACCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAACTACT GCTGTGCCCACTGAGGCTGACCACGGGCATCGCCAACTACTGCTGTGCCC ACTGAGGCTGACCACGGGCATCGCCAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0176 a0002c0001t0001g0176	1	200	0.0050	226	c.449 others(243): Show c.449+6959_449+6960insTTGGCGATGCCCGTGGTCAGCCTCAGTG GGCACAGCAGTAGTTGGCGATGCCCGTGGTCAGCCTCAGTGGGCACAGCA GTAGTTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGTGCAGCGGT AGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCACAGCAGTAG CTGGCGATGCCCCCGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466726	G G	GTGGGGAG others(219): Show GTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA18970.hp1 NA20805.hp1 HG00323.hp1 NA18970.hp1 NA20805.hp1	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0002 a0006c0043 a0008c0008 a0002c0002 a0006c0043 a0008c0008	a0002c0002t0002 a0006c0043t0002 a0008c0008t0002 a0002c0002t0002 a0006c0043t0002 a0008c0008t0002	a0002c0002t0002g0003 a0006c0043t0002g0006 a0008c0008t0002g0003 a0002c0002t0002g0003 a0006c0043t0002g0006 a0008c0008t0002g0003	3	271	0.0111	226	c.34 others(235): Show c.343_*344insTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		217		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467381	A A	AAGAGGAG others(219): Show AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0032 a0005c0010t0032	a0005c0010t0032g0004 a0005c0010t0032g0004	1	271	0.0037	226	c.99 others(235): Show c.998_*999insAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		872		chrX	TogoVar
VCX_chrX_7838171_7849143	7844242	G G	GGGGAGGG others(219): Show GGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGAAGAGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG02735.hp1 HG03654.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	2	341	0.0059	226	c.22 others(235): Show c.226_*227insGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		100		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(219): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0058 a0003c0005t0001g0058	1	274	0.0037	226	c.200 others(243): Show c.2004+709_2004+710insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTTATA others(219): Show GTGTTATATACACTGTATATACAGTGTATACACTGTATATACAGTATATA CACTGTATATACAGTGTATGCACTGTATATACAGTATATACTGTATATAC AGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACA GTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTG TATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02970.hp2 others(1): Show HG02055.hp2 HG02145.hp1 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0208 a0001c0001t0016g0086	4	216	0.0185	226	c.75+ others(243): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACAGTATATACTGTATATACAGTGCATACACTGTATATACAGTGT ATATACTGTATATACAGTGTATACACTGTATATACAGTGTATATAACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar

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