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
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(285): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp2 HG01175.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0181 a0001c0001t0004g0167 a0001c0001t0004g0181	2	315	0.0063	292	c.269 others(307): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RASGEF1B_chr4_81421393_81476907	81466766	A A	AAAAGAAA others(285): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	299	0.0033	292	c.-7+ others(307): Show c.-7+5003_-7+5004insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RBFOX1_chr16_6014024_7718340	7229852	G G	GAGGAAGA others(285): Show GAGGAAGAGGGGAAGGAAGGAAGGGAGAGAGAGGAAGCAAGGGAGGGAGG GGGAAGAAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG GAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAA GGAAGGAAGGGAGAGAGAGGAAGCAAGGGAGGGAGGGGGAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	49	0.0204	292	c.27+ others(311): Show c.27+177760_27+177761insAGGGGAAGGAAGGAAGGGAGAGAGAG GAAGCAAGGGAGGGAGGGGGAAGAAGGAAGGGAGAGAGAGGAAGGAAGGG AGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGA AGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG AGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAG AGGGAGGAAGAGGGGAAGGAAGGAAGGGAGAGAGAGGAAGCAAGGGAGGG AGGGGGAAGAAGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(285): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0080 a0001c0001t0005g0081 a0001c0001t0003g0080 a0001c0001t0005g0081	2	324	0.0062	292	c.137 others(309): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGA GGTGTGTTCTTTCT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(285): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(32): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03225.hp1 NA18747.hp2 NA18951.hp1 NA18962.hp1 NA18979.hp2 NA19001.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19087.hp2 NA19240.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0004c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0175 others(32): Show a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0023 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0093 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0375 a0001c0001t0005g0064 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0089 a0001c0001t0007g0026 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0011g0057 a0001c0001t0015g0063 a0001c0001t0015g0065 a0001c0001t0020g0052 a0001c0001t0020g0053 a0001c0001t0022g0051 a0004c0009t0001g0066	35	357	0.0980	292	c.137 others(309): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGA GGTGTGTTCTTTCT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(285): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGG AGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGG GGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGA GAGGGGAGGAGGGGAGGGGGGAGGAGGAAGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	286	0.0035	292	c.36 others(303): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGG GGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGGAGGAGGAAGGAGGA GGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(285): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	292	c.-23 others(303): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATATGTATGCATACACATAC ATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(285): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATATAATATATATATAAAATATATAT ATATATTATATATATATATAAAATATATATAAAATATATATATAATATAT ATATAAAATATATATATAATATATATATAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02523.hp2 NA19086.hp2 HG02071.hp2 HG02523.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0149 a0002c0002t0001g0004 a0002c0002t0001g0149	3	242	0.0124	292	c.67- others(305): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATATTATATATATATTTTATATATATATTTTATATATATATATT ATATATATATATTTTATATATATATATTATATATATATATTTTATATATA TATATTATATATATATATTTTATATATATATATTATATATATATATTTTA TATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(285): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	145	0.0069	292	c.3+2 others(307): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTTTCTT others(285): Show TTTTTCTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0098 a0001c0004t0002g0098	1	265	0.0038	292	c.3+2 others(307): Show c.3+24932_3+24933insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAAAGAAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(285): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19056.hp1 NA19058.hp2 NA18982.hp1 NA19056.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0234 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0234	3	417	0.0072	292	c.21 others(303): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar
RPH3AL_chr17_207389_357807	287687	T T	TCTCTCCA others(285): Show TCTCTCCACCGTCAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTATCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	130	0.0077	292	c.352 others(309): Show c.352-5834_352-5833insGGTGCGAGGTCTGACGGTGGAGAGAGGG TGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGTGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGGGTGTGAGGTCTGACGGTGGATAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGCGTGCGAGGT CTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(285): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACACATATGTATATATACGTATACGTATATAT ACATATACGTATATATACATATATGTATATATACATATATGTATATATAC GTATATGTATATATACATATGTGTATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	161	0.0062	292	c.731 others(311): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATACGTATATATACATATATGTATATATACATATATG TATATATACGTATATGTATATATACGTATACGTATATATACATATGTGTA TATATACATATATGTATATATACATATATGTGTATATATGTATATATACA CATATATGTATATATATGTATATATACATATATGTGTATATACATATATG TATATATGTATATATACACATATATATATATACATATATGTGTATATACA TATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(285): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ACACATATATGTATATATACATATACGTATATATACATATACGTATATAT ACATATATGTATATATACATATATGTATATATACGTATATGTATATATAC ACATATGTATATATACATATGTGTATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG01257.hp2 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0102 a0001c0003t0001g0134 a0001c0002t0001g0102 a0001c0003t0001g0134	2	162	0.0123	292	c.731 others(311): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATACGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACGTATATGTA TATATACATATATGTGTATATACATATATGTGTATATATGTATATATACA CATATATGTATATATATGTATATATACATATATGTGTATATACATATATG TGTATATATGTATATATACACATATATATATACATATATGTGTATATACA TATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(285): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACATATACGTATATAT ACATATATGTATATATACATATATGTATATATACATATATGTATATATAC ACATATGTATATATACATATGTGTATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0140 a0001c0002t0007g0140	1	161	0.0062	292	c.731 others(311): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATATGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACGTATATGTA TATATACATATATGTATATATACATATATGTGTATATATGTATATATACA CATATATGTATATATATGTATATATACATATATGTGTATATACATATATG TGTATATATGTATATATACACATATATATATACATATATGTGTATATACA TATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(285): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0266 a0001c0001t0011g0266	1	259	0.0039	292	c.166 others(309): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(285): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC TGTCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0287 a0005c0017t0002g0287	1	260	0.0038	292	c.166 others(309): Show c.1663-933_1663-932insGTGTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCTGTCCCGTGTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289375	T T	TCCCCCGT others(285): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0086 a0002c0003t0002g0086	1	259	0.0039	292	c.166 others(309): Show c.1663-893_1663-892insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(285): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG02145.hp1 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0041 a0001c0006t0001g0040 a0001c0006t0001g0041	2	299	0.0067	292	c.-83 others(301): Show c.-839_-838insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCC CGGCTAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTGTTTGAG TTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GTGGGGAG others(285): Show GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0045 a0003c0006t0045	a0003c0006t0045g0008 a0003c0006t0045g0008	1	144	0.0069	292	c.257 others(311): Show c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCC TCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401088	G G	GCCCCGCT others(285): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGGC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	230	0.0043	292	c.48 others(303): Show c.4807_*4808insGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGCCGGGGGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGT GAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4627		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(285): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0073 a0002c0012t0003g0073	1	104	0.0096	292	c.224 others(311): Show c.2241+2346_2241+2347insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(285): Show TGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATGGT TGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATGGA TGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAATGGATGG ATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGGAT GGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02559.hp2 HG00423.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0189 a0001c0001t0001g0192	2	219	0.0091	292	c.831 others(309): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(285): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATACATATATGTACATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0151 a0001c0001t0042g0151	1	155	0.0065	292	c.173 others(311): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(285): Show CAGTCAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01167.hp1 others(1): Show HG00733.hp2 HG01074.hp1 HG01167.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0059g0061	4	73	0.0548	292	c.100 others(311): Show c.1003-9033_1003-9032insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTAGTCAAAGAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AATATAAA others(285): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02897.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097	3	134	0.0224	292	c.-70 others(309): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTTTATATATAATATATATAATATATT TATATTTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203362	A A	AGGGAGAG others(285): Show AGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAC CGTGGAGAGAGAGAGAGAGAGAGAGGGAGGGAGAGGGAGAGGGAGACCGT GGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGGGA GAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAG GGAGAGAGGGGAGAGAGGGAGAGAGAGAGAGAGAGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0149 a0004c0007t0014g0149	1	181	0.0055	292	c.82 others(303): Show c.8209_*8210insCACGGTCTCTCTCTCTCTCTCTCTCCCTCTCTCC CCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTC TCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCTCTCTCT CTCTCCACGGTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTC CCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3811		chr8	TogoVar
SLC46A2_chr9_112873920_112895876	112895773	C C	CCATCATC others(285): Show CCATCATCCATCCATCCATCCATCCACCCATCCACCCACCCATCATCCAT CCATCCCTCCATCCACCCCACCCGATCATCCATCCATCCATCCACCCATC CACCCACCCATCATCCATCCCTCCATCCACCCATCCCACCCACCCATCAT CCATCCATCCCTCCATCCACCCATCCACCCACCCTTCATCCATCCATCCA TCCACCCATCCACCCACCCATCATCCATCCATCCCTCCACCCATCCACCC CACCCATCATCCATCTATCCATTAAACAATACACCACCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0147 a0001c0003t0002g0147	1	157	0.0064	292	c.-50 others(303): Show c.-5093_-5092insATGGGGGTGGTGTATTGTTTAATGGATAGATGGA TGATGGGTGGGGTGGATGGGTGGAGGGATGGATGGATGATGGGTGGGTGG ATGGGTGGATGGATGGATGGATGAAGGGTGGGTGGATGGGTGGATGGAGG GATGGATGGATGATGGGTGGGTGGGATGGGTGGATGGAGGGATGGATGAT GGGTGGGTGGATGGGTGGATGGATGGATGGATGATCGGGTGGGGTGGATG GAGGGATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGGATGGAT GGATGATG	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding		4898		chr9	TogoVar
SMYD3_chr1_245744347_246512279	246232860	C C	CTCAATTC others(285): Show CTCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCA ATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCGCTCCTTCAA TTCACACTGTGATGAACATATACCACACAGGGGAGAAGCACTCCTTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATC CACACTGTGATGAACATATTCCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	83	0.0120	292	c.531 others(311): Show c.531+94340_531+94341insAGGAGTGCTTCTCCTCTGTGTGGAAT ATGTTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCCCTGTGTGGTATAT GTTCATCACAGTGTGAATTGAAGGAGCGCTTCTCCTCTGTGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232860	C C	CTCAATTC others(285): Show CTCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCA ATTCACACTGTGATGAACATATACCACGCAGAGGAGAAGCGCTCCTTCAA TTCACACTGTGATGAACATATACCACACAGGGGAGAAGCACTCCTTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATC CACACTGTGATGAACATATTCCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(57): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG04115.hp1 HG04228.hp2 NA18962.hp2 NA18963.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0016 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0016t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0086 a0001c0002t0002g0024 a0001c0002t0002g0052 a0001c0002t0002g0083 a0001c0006t0001g0014 a0001c0006t0001g0060 a0002c0003t0001g0096 a0002c0003t0001g0103 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0127 a0002c0003t0001g0136 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0120 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0002g0147 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0128 a0002c0004t0001g0132 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0149 a0002c0004t0002g0116 a0002c0005t0001g0113 a0002c0005t0001g0119 a0002c0005t0001g0123 a0002c0005t0002g0106 a0002c0005t0002g0130 a0002c0016t0001g0097 a0004c0010t0001g0077	60	142	0.4225	292	c.531 others(311): Show c.531+94340_531+94341insAGGAGTGCTTCTCCTCTGTGTGGAAT ATGTTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCCCTGTGTGGTATAT GTTCATCACAGTGTGAATTGAAGGAGCGCTTCTCCTCTGCGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232860	C C	CTCAATTC others(285): Show CTCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCA ATTCACACTGTGATGAACATATACCACGCAGAGGAGAAGCGCTCCTTCAA TTCACACTGTGATGAACATATACCACACAGGGGAGAAGCACTCCTTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCGCTCCTTCAATC CACACTGTGATGAACATATTCCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	83	0.0120	292	c.531 others(311): Show c.531+94340_531+94341insAGGAGTGCTTCTCCTCTGTGTGGAAT ATGTTCATCACAGTGTGGATTGAAGGAGCGCTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCCCTGTGTGGTATAT GTTCATCACAGTGTGAATTGAAGGAGCGCTTCTCCTCTGCGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232860	C C	CTCAATTC others(285): Show CTCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCA ATTCACACTGTGATGAACATATACCACGCAGAGGAGAAGCGCTCCTTCAG TTCACACTGTGATGAACATATACCACACAGGGGAGAAGCACTCCTTCAAT TCACACTGTGATGAACATATACCACGCAGAGGAGAAGCACTCCTTCAATC CACACTGTGATGAACATATTCCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 NA19240.hp1 HG01433.hp2 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0001 a0001c0006t0003	a0001c0001t0001g0080 a0001c0006t0001g0071 a0001c0006t0003g0001 a0001c0001t0001g0080 a0001c0006t0001g0071 a0001c0006t0003g0001	3	85	0.0353	292	c.531 others(311): Show c.531+94340_531+94341insAGGAGTGCTTCTCCTCTGTGTGGAAT ATGTTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGCGTGGTATA TGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCCCTGTGTGGTATAT GTTCATCACAGTGTGAACTGAAGGAGCGCTTCTCCTCTGCGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(285): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACG ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	316	0.0032	292	c.265 others(309): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTT CACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCG CCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	965349	G G	GTCCTCCT others(285): Show GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0125 a0007c0017t0001g0125	1	180	0.0056	292	c.72+ others(309): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(285): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19057.hp1 NA18955.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0096 a0001c0002t0003g0097	2	130	0.0154	292	c.-13 others(309): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(285): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0115 a0001c0002t0053g0115	1	66	0.0152	292	c.548 others(311): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATC others(285): Show TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATTATATAACATGATGATATATAATATATATTATTATATAA CATATGATGATATATAATATATATTATTATATAACATATGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0149 a0003c0012t0008g0149	1	335	0.0030	292	c.-11 others(313): Show c.-112+29327_-112+29328insTATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATTATATAACATGATGATA TATAATATATATTATTATATAACATATGATGATATATAATATATATTATT ATATAACATATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843692	T T	TTTTTTTT others(285): Show TTTTTTTTTTTTTTGAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGAATG CAGTGGCGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCA ATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCAC CACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGT TGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCC TCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	353	0.0028	292	c.245 others(309): Show c.245-1625_245-1624insTTTTTTTTGAGACAGAGTCTCGCTTTGT TGCCCAGGCTGGAATGCAGTGGCGTGATCTAGGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGAT TACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGA TCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACT GTGCCTGGCTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4462402	C C	CACCAATC others(285): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA CCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01516.hp2 others(4): Show HG00639.hp1 HG01175.hp1 HG01516.hp2 HG02148.hp2 HG03490.hp1 HG03492.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0003c0029	a0001c0003t0002 a0001c0007t0003 a0001c0010t0001 others(2): Show a0001c0003t0002 a0001c0007t0003 a0001c0010t0001 a0001c0010t0002 a0003c0029t0003	a0001c0003t0002g0256 a0001c0007t0003g0163 a0001c0010t0001g0084 others(4): Show a0001c0003t0002g0256 a0001c0007t0003g0163 a0001c0010t0001g0084 a0001c0010t0002g0081 a0001c0010t0002g0087 a0001c0010t0002g0088 a0003c0029t0003g0085	7	325	0.0215	292	c.111 others(311): Show c.1113+9198_1113+9199insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCACCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807411	G G	GGAGGGGA others(285): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0130 a0012c0013t0001g0130	1	257	0.0039	292	c.138 others(311): Show c.1384-5707_1384-5706insTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(285): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0103 a0003c0003t0001g0103	1	6	0.1667	292	c.138 others(311): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137190011	C C	CTATAATT others(285): Show CTATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAACCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG01099.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0058 a0001c0001t0004g0020 a0001c0001t0003g0058 a0001c0001t0004g0020	2	138	0.0145	292	c.233 others(311): Show c.233-49318_233-49317insCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGTTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAATTATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SRXN1_chr20_641615_658200	642005	G G	GGGGGGGG others(285): Show GGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	419	0.0024	292	c.67 others(303): Show c.6708_*6709insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4609		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(285): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0135 a0001c0001t0025g0135	1	71	0.0141	292	c.262 others(311): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(285): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03831.hp1 HG01256.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0022 a0001c0001t0018g0033 a0001c0001t0003g0022 a0001c0001t0018g0033	2	72	0.0278	292	c.262 others(311): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(285): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	71	0.0141	292	c.262 others(311): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(285): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	71	0.0141	292	c.262 others(311): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(285): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTTCCCCTCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	2	0.5000	292	c.262 others(311): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STN1_chr10_103872569_103923184	103919694	T T	TAAAAAAA others(285): Show TAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	239	0.0042	292	c.-16 others(303): Show c.-1658_-1657insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTT TTTTTTTT	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding		1511		chr10	TogoVar
SVOPL_chr7_138589285_138706362	138683876	A A	ACCCTGTC others(285): Show ACCCTGTCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCATCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0298 a0001c0001t0010g0298	1	358	0.0028	292	c.-34 others(309): Show c.-34-4798_-34-4797insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGATGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATAGAGACAGGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	1/15			chr7	TogoVar

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