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
BEST3_chr12_69648609_69704303	69700888	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02451.hp2 HG03195.hp1 others(1): Show HG01934.hp2 HG02451.hp2 HG03195.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0195 a0001c0001t0002g0270 a0001c0001t0002g0281 others(1): Show a0001c0001t0002g0195 a0001c0001t0002g0270 a0001c0001t0002g0281 a0001c0004t0001g0059	4	262	0.0153	-20	c.-17 others(31): Show c.-1719_-1700delGGAAGGAAGGAAGGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1586		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700944	CTTCCTTC others(13): Show CTTCCTTCGTTCCTTCCTTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02615.hp2 others(10): Show HG01243.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 NA18747.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 a0004c0005t0005	a0001c0001t0001g0233 a0001c0001t0010g0314 a0003c0003t0001g0033 others(9): Show a0001c0001t0001g0233 a0001c0001t0010g0314 a0003c0003t0001g0033 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0234 a0004c0005t0005g0213	13	334	0.0389	-20	c.-17 others(31): Show c.-1775_-1756delCGAAGGAAGGAACGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1642		chr12	TogoVar
BEST4_chr1_44778585_44793170	44782629	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01884.hp2 others(28): Show HG00642.hp1 HG01167.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0006 a0001c0001 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0005t0003 a0004c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0013g0036 a0001c0005t0003g0010 a0004c0006t0002g0032	31	133	0.2331	-20	c.15 others(31): Show c.1561_*1580delATTTATTTATTTATTTATTT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		955		chr1	TogoVar
BEX1_chrX_103057651_103069171	103059998	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	-20	c.28 others(31): Show c.2879_*2898delTAGAGAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2652		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060000	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02451.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	336	0.0060	-20	c.28 others(31): Show c.2877_*2896delTATAGAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2650		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060002	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19065.hp1 NA18984.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	333	0.0060	-20	c.28 others(31): Show c.2875_*2894delTATATAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2648		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060004	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18954.hp2 HG00673.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	323	0.0062	-20	c.28 others(31): Show c.2873_*2892delTATATATAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2646		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060006	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	-20	c.28 others(31): Show c.2871_*2890delTATATATATAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2644		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309250	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG03139.hp1 HG02809.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0005t0001g0012 a0001c0001t0001g0001 a0001c0005t0001g0012	3	208	0.0144	-20	c.32 others(29): Show c.320_*339delTATATATATATATATATACA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		95		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	CATATATA others(13): Show CATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA19066.hp1 HG02056.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	24	0.0833	-20	c.30 others(29): Show c.304_*323delATATATATATATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 HG02523.hp2 others(8): Show HG02083.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG03834.hp2 HG03942.hp2 NA18963.hp2 NA18999.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0002t0001g0037 others(8): Show a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0128 a0001c0002t0001g0159 a0001c0002t0001g0196 a0001c0002t0001g0217 a0001c0002t0001g0226 a0001c0002t0001g0236 a0002c0003t0001g0219	11	40	0.2750	-20	c.490 others(35): Show c.490-696_490-677delTATATATATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153499556	CCCAAGCG others(13): Show CCCAAGCGTGGCTGCCTGAAG	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	319	0.0031	-20	c.-12 others(37): Show c.-12+4444_-12+4463delCCAAGCGTGGCTGCCTGAAG	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	1/7			chrX	TogoVar
BHLHA15_chr7_98206439_98220457	98214158	ACCAGGTG others(13): Show ACCAGGTGGCCCTGCCCTCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG03195.hp1 others(1): Show HG02258.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	4	454	0.0088	-20	c.12 others(31): Show c.1281_*1300delCAGGTGGCCCTGCCCTCCCC	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding	2/2	1281	INFO_REALIGN_3_PRIME	chr7	TogoVar
BHLHE41_chr12_26115030_26130037	26128041	TTACAAAG others(13): Show TTACAAAGTGAGATTGCAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02451.hp2 others(11): Show HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0003c0003t0002 a0004c0004t0001	a0001c0001t0002g0002 a0001c0001t0003g0004 a0003c0003t0002g0006 others(1): Show a0001c0001t0002g0002 a0001c0001t0003g0004 a0003c0003t0002g0006 a0004c0004t0001g0008	14	420	0.0333	-20	c.-32 others(31): Show c.-3282_-3263delTTTTGCAATCTCACTTTGTA	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding		3005		chr12	TogoVar
BHMT2_chr5_79064767_79095069	79088358	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG03516.hp1 others(1): Show HG02559.hp2 HG02723.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0024 a0001c0002t0001g0114 a0001c0001t0003g0024 a0001c0002t0001g0114	4	91	0.0440	-20	c.101 others(36): Show c.1011-114_1011-95delTGTGTGTGTGTGTGTGTGTG	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT_chr5_79106809_79137288	79134090	AGGGAGGG others(13): Show AGGGAGGGAGGAAGGAGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	429	0.0023	-20	c.29 others(31): Show c.2975_*2994delGGGAGGGAGGAAGGAGGGCG	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		1803		chr5	TogoVar
BICC1_chr10_58507872_58836435	58521768	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00621.hp1 others(59): Show HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18961.hp1 NA18965.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA19060.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0007 a0004c0005 a0005c0011 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0002t0035 a0002c0003t0004 a0002c0003t0009 a0002c0003t0015 a0002c0003t0016 a0002c0003t0022 a0002c0003t0025 a0002c0003t0031 a0002c0008t0044 a0003c0004t0024 a0003c0004t0034 a0003c0007t0032 a0004c0005t0004 a0004c0005t0029 a0004c0005t0033 a0005c0011t0005 a0007c0009t0030	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 others(59): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0005g0005 a0001c0001t0005g0014 a0001c0001t0007g0122 a0001c0001t0012g0004 a0001c0001t0012g0018 a0001c0001t0012g0047 a0001c0001t0021g0035 a0001c0001t0023g0057 a0001c0001t0026g0032 a0001c0001t0027g0038 a0001c0001t0028g0022 a0002c0002t0004g0021 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0033 a0002c0002t0004g0055 a0002c0002t0005g0019 a0002c0002t0005g0023 a0002c0002t0005g0029 a0002c0002t0005g0063 a0002c0002t0008g0025 a0002c0002t0008g0026 a0002c0002t0008g0040 a0002c0002t0008g0041 a0002c0002t0008g0048 a0002c0002t0009g0118 a0002c0002t0010g0121 a0002c0002t0010g0123 a0002c0002t0017g0061 a0002c0002t0035g0016 a0002c0003t0004g0042 a0002c0003t0009g0120 a0002c0003t0015g0010 a0002c0003t0015g0054 a0002c0003t0016g0050 a0002c0003t0022g0058 a0002c0003t0025g0037 a0002c0003t0031g0039 a0002c0008t0044g0117 a0003c0004t0024g0056 a0003c0004t0034g0034 a0003c0007t0032g0036 a0004c0005t0004g0060 a0004c0005t0029g0009 a0004c0005t0033g0043 a0005c0011t0005g0030 a0007c0009t0030g0012	62	67	0.9254	-20	c.190 others(37): Show c.190+8454_190+8473delTTTTTTTTTTTTTTTTTTTT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(13): Show GTGTGTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01255.hp1 others(2): Show HG00741.hp2 HG01106.hp1 HG01255.hp1 HG02886.hp2 HG03239.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0005	a0001c0001t0003 a0001c0001t0006 a0002c0002t0005 others(2): Show a0001c0001t0003 a0001c0001t0006 a0002c0002t0005 a0002c0003t0009 a0004c0005t0052	a0001c0001t0003g0052 a0001c0001t0006g0105 a0002c0002t0005g0029 others(2): Show a0001c0001t0003g0052 a0001c0001t0006g0105 a0002c0002t0005g0029 a0002c0003t0009g0104 a0004c0005t0052g0092	5	23	0.2174	-20	c.307 others(39): Show c.307+30230_307+30249delGTGTATGTATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58756626	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp1 others(32): Show HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp2 HG04115.hp1 HG04204.hp2 NA18747.hp1 NA18965.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0005c0011 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0001t0047 a0001c0001t0050 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0003t0015 a0002c0003t0019 a0002c0006t0038 a0005c0011t0005 a0006c0012t0017	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0109 others(32): Show a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0002g0003 a0001c0001t0002g0064 a0001c0001t0003g0045 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0006g0105 a0001c0001t0007g0071 a0001c0001t0007g0096 a0001c0001t0026g0032 a0001c0001t0028g0022 a0001c0001t0039g0126 a0001c0001t0041g0130 a0001c0001t0047g0086 a0001c0001t0050g0098 a0002c0002t0001g0103 a0002c0002t0004g0021 a0002c0002t0004g0027 a0002c0002t0004g0033 a0002c0002t0005g0019 a0002c0002t0005g0023 a0002c0002t0006g0102 a0002c0002t0008g0025 a0002c0002t0008g0040 a0002c0002t0008g0048 a0002c0002t0010g0073 a0002c0002t0011g0091 a0002c0003t0015g0054 a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0006t0038g0110 a0005c0011t0005g0030 a0006c0012t0017g0053	35	51	0.6863	-20	c.308 others(39): Show c.308-28362_308-28343delTTTTTTTTTTTTTTTTTTTT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58816745	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0050 a0002c0003t0016g0050	1	8	0.1250	-20	c.253 others(37): Show c.2534-786_2534-767delTGTGTGTGTGTGTGTGTGTG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116472	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 HG03927.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0001c0002t0002 a0001c0003t0002 a0001c0005t0009 a0001c0005t0012	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(6): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0018g0224 a0001c0001t0019g0184 a0001c0002t0002g0208 a0001c0003t0002g0240 a0001c0005t0009g0271 a0001c0005t0012g0270	9	278	0.0324	-20	c.213 others(37): Show c.213+8948_213+8967delTTCTCTCTCTCTCTCTCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32231559	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0244 a0001c0001t0060g0244	1	61	0.0164	-20	c.426 others(39): Show c.426+15123_426+15142delTATTTATTTATTTATTTATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346596	ATATATAT others(13): Show ATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01934.hp1 others(2): Show HG00639.hp1 HG01169.hp1 HG01934.hp1 HG03017.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0002t0025	a0001c0001t0004g0130 a0001c0001t0011g0254 a0001c0001t0011g0264 others(2): Show a0001c0001t0004g0130 a0001c0001t0011g0254 a0001c0001t0011g0264 a0001c0002t0002g0052 a0001c0002t0025g0069	5	288	0.0174	-20	c.276 others(39): Show c.2764+7634_2764+7653delCGTGTATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346618	ATATATAT others(13): Show ATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0256 a0002c0010t0008g0256	1	288	0.0035	-20	c.276 others(39): Show c.2764+7656_2764+7675delCGTGTATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32348723	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	6	0.1667	-20	c.276 others(39): Show c.2764+9781_2764+9800delATATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120083629	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18994.hp2 NA18956.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0250 a0001c0001t0005g0251	2	108	0.0185	-20	c.158 others(39): Show c.1583+2641_1583+2660delTATTTATTTATTTATTTATT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp2 HG02280.hp1 others(5): Show HG00642.hp2 HG02109.hp2 HG02280.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG03491.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0229 a0001c0001t0003g0009 a0001c0001t0005g0065 others(5): Show a0001c0001t0001g0229 a0001c0001t0003g0009 a0001c0001t0005g0065 a0001c0001t0006g0007 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0027g0064 a0001c0001t0028g0010	8	50	0.1600	-20	c.184 others(39): Show c.1840-7566_1840-7547delAAAAAAAAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844528	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02897.hp1 others(6): Show HG02109.hp1 HG02257.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017	a0001c0001t0001g0008 a0001c0001t0004g0127 a0001c0001t0004g0157 others(6): Show a0001c0001t0001g0008 a0001c0001t0004g0127 a0001c0001t0004g0157 a0001c0001t0004g0219 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0017g0015	9	268	0.0336	-20	c.184 others(39): Show c.1840-7563_1840-7544delAAAAAAAAAAAAAAAAAGAG	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12			chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02280.hp1 HG02717.hp1 others(3): Show HG02165.hp2 HG02280.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0106 a0001c0001t0001g0217 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0217 a0001c0001t0001g0245 a0001c0001t0003g0009 a0001c0001t0003g0224 a0001c0001t0012g0062	6	12	0.5000	-20	c.184 others(39): Show c.1840-6863_1840-6844delTTTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIRC2_chr11_102342214_102383670	102364139	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(15): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01978.hp1 HG02280.hp2 HG02622.hp1 HG02738.hp1 HG02818.hp1 HG03017.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 a0001c0001t0001 a0001c0001t0005 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0071 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0044 a0001c0001t0005g0045 a0003c0003t0001g0036	18	246	0.0732	-20	c.112 others(37): Show c.1123+440_1123+459delTATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364162	TATATATA others(13): Show TATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG02109.hp1 others(3): Show HG00738.hp2 HG01099.hp1 HG02109.hp1 HG02965.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0005 a0001c0001t0001g0206 a0001c0001t0001g0207	6	340	0.0176	-20	c.112 others(37): Show c.1123+448_1123+467delTATATATATATACACACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32372207	GCATAGAT others(13): Show GCATAGATTGATGTAACCCAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0098 a0002c0038t0001g0098	1	272	0.0037	-20	c.326 others(37): Show c.326-5377_326-5358delAGATTGATGTAACCCACCAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460998	CTCTCTTC others(13): Show CTCTCTTCTCTTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02615.hp2 HG02818.hp1 HG01516.hp1 HG02615.hp2 HG02818.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0001c0025 a0003c0017 a0001c0014 a0001c0025 a0003c0017	a0001c0014t0001 a0001c0025t0001 a0003c0017t0001 a0001c0014t0001 a0001c0025t0001 a0003c0017t0001	a0001c0014t0001g0157 a0001c0025t0001g0175 a0003c0017t0001g0127 a0001c0014t0001g0157 a0001c0025t0001g0175 a0003c0017t0001g0127	3	231	0.0130	-20	c.475 others(39): Show c.4754-2147_4754-2128delCTTCTCTTCTCTTCTCTTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461047	CTTCTCTT others(13): Show CTTCTCTTCTCTTCTCTTCTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0159 a0001c0014t0001g0159	1	268	0.0037	-20	c.475 others(39): Show c.4754-2141_4754-2122delTTCTCTTCTCTTCTGTTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461058	TTCTCTTC others(13): Show TTCTCTTCTGTTCTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0144 a0004c0047t0001g0144	1	169	0.0059	-20	c.475 others(39): Show c.4754-2131_4754-2112delTTCTGTTCTCCTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32473706	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0155 a0001c0013t0001g0155	1	90	0.0111	-20	c.672 others(37): Show c.6720+492_6720+511delGTGTGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(52): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02622.hp1 HG02738.hp1 HG02895.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG04228.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18964.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0046 a0002c0002 a0002c0004 a0003c0017 a0004c0019 a0004c0047 a0005c0020 a0007c0045 a0012c0036	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(13): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0046t0001 a0002c0002t0001 a0002c0004t0001 a0003c0017t0001 a0004c0019t0001 a0004c0047t0001 a0005c0020t0001 a0007c0045t0004 a0012c0036t0001	a0001c0001t0001g0236 a0001c0001t0001g0269 a0001c0001t0001g0270 others(52): Show a0001c0001t0001g0236 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0003t0001g0024 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0059 a0001c0003t0001g0097 a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0148 a0001c0003t0001g0265 a0001c0003t0005g0032 a0001c0006t0001g0002 a0001c0006t0001g0003 a0001c0006t0001g0004 a0001c0006t0001g0005 a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0013 a0001c0008t0001g0060 a0001c0008t0001g0061 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0146 a0001c0010t0001g0141 a0001c0013t0001g0037 a0001c0013t0001g0152 a0001c0013t0001g0153 a0001c0046t0001g0156 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0004t0001g0180 a0003c0017t0001g0127 a0004c0019t0001g0143 a0004c0047t0001g0144 a0005c0020t0001g0001 a0005c0020t0001g0012 a0007c0045t0004g0154 a0012c0036t0001g0125	55	58	0.9483	-20	c.740 others(37): Show c.7409-681_7409-662delTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0002 a0001c0030t0002 a0001c0007t0002 a0001c0030t0002	a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0020 others(4): Show a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0020 a0001c0007t0002g0021 a0001c0007t0002g0022 a0001c0007t0002g0023 a0001c0030t0002g0018	7	27	0.2593	-20	c.122 others(39): Show c.12291+601_12291+620delTGTGTGTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0096 a0001c0010t0001g0096	1	14	0.0714	-20	c.131 others(41): Show c.13144+3734_13144+3753delAAAAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63235099	GGTTGGGG others(13): Show GGTTGGGGGGTGTCGAAGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	298	0.0034	-20	c.-99 others(29): Show c.-997_-978delGTTGGGGGGTGTCGAAGTCT	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		805		chr20	TogoVar
BLK_chr8_11489387_11569599	11510800	AATAAATA others(13): Show AATAAATAAATAAATAAATAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	306	0.0033	-20	c.-2+ others(37): Show c.-2+16219_-2+16238delTAAATAAATACATAAATAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11535261	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	108	0.0093	-20	c.-1- others(35): Show c.-1-7918_-1-7899delAAGAAAGAAAGAAAGAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560151	GTGGGTGG others(13): Show GTGGGTGGGTGGGTGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(53): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp2 HG02055.hp1 HG02723.hp1 HG02738.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA19030.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0003c0008	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0019t0003 a0003c0008t0008	a0001c0001t0003g0002 a0001c0001t0003g0078 a0001c0001t0003g0252 others(46): Show a0001c0001t0003g0002 a0001c0001t0003g0078 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0276 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0008g0006 a0001c0001t0008g0139 a0001c0001t0008g0192 a0001c0001t0008g0204 a0001c0001t0008g0231 a0001c0001t0011g0004 a0001c0001t0011g0013 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0253 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0277 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0289 a0001c0002t0008g0011 a0001c0002t0008g0226 a0001c0002t0008g0229 a0001c0002t0008g0233 a0001c0002t0011g0026 a0001c0002t0016g0025 a0001c0019t0003g0094 a0003c0008t0008g0293	56	292	0.1918	-20	c.103 others(39): Show c.1030-1147_1030-1128delGTGGGTGGGTGGGTGGATGG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560167	GTGGATGG others(13): Show GTGGATGGATGGATGCATGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(135): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0016 a0001c0017 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0010t0001 a0001c0016t0005 a0001c0017t0001 a0001c0018t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(132): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0005g0010 a0001c0001t0005g0079 a0001c0001t0005g0085 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0269 a0001c0001t0005g0291 a0001c0001t0014g0110 a0001c0001t0014g0111 a0001c0001t0018g0167 a0001c0002t0001g0105 a0001c0002t0001g0113 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0166 a0001c0002t0001g0173 a0001c0002t0001g0201 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0070 a0001c0002t0005g0279 a0001c0002t0006g0234 a0001c0010t0001g0007 a0001c0016t0005g0010 a0001c0017t0001g0171 a0001c0018t0001g0191	138	301	0.4585	-20	c.103 others(39): Show c.1030-1120_1030-1101delCATGGATGGATGGATGGATG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLOC1S2_chr10_100268293_100291680	100276313	TCCCGTCT others(13): Show TCCCGTCTCCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0155 a0001c0001t0012g0155	1	374	0.0027	-20	c.398 others(35): Show c.398-840_398-821delGAGAGAGAGAGGGAGACGGG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	GCACACAC others(13): Show GCACACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0001 a0001c0002t0006g0001	1	163	0.0061	-20	c.-16 others(31): Show c.-1649_-1630delCACACACACACACACACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S4_chr4_6711174_6722664	6716006	CAGCGCGC others(13): Show CAGCGCGCATGCGTGAGCGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA18963.hp1 HG03453.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0000 a0001c0001t0007g0000 a0001c0001t0001g0000 a0001c0001t0007g0000	2	445	0.0045	-20	c.-20 others(29): Show c.-203_-184delAGCGCGCATGCGTGAGCGTG	BLOC1S4	ENSG00000186222.5	transcript	ENST00000320776.5	protein_coding		167		chr4	TogoVar
BLTP1_chr4_122147331_122367752	122216085	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp1 HG02559.hp2 others(3): Show HG01346.hp1 HG02055.hp1 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0207 a0001c0005t0002g0001 a0001c0005t0002g0005 others(2): Show a0001c0001t0001g0207 a0001c0005t0002g0001 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0007	6	140	0.0429	-20	c.224 others(39): Show c.2248-3214_2248-3195delTCTATCTATCTATCTATCTA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	20/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122283242	AGTATATA others(13): Show AGTATATAACCAGTGATCATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02055.hp2 others(14): Show HG01361.hp2 HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0003 a0008 a0003 a0008	a0003c0006 a0008c0011 a0003c0006 a0008c0011	a0003c0006t0001 a0008c0011t0001 a0008c0011t0007 a0003c0006t0001 a0008c0011t0001 a0008c0011t0007	a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(14): Show a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0008c0011t0001g0045 a0008c0011t0001g0112 a0008c0011t0007g0039	17	334	0.0509	-20	c.903 others(39): Show c.9037+1500_9037+1519delGTGATCATTGTATATAACCA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	52/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0112 a0008c0011t0001g0112	1	11	0.0909	-20	c.109 others(41): Show c.10996-2431_10996-2412delTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar

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