Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERPINB7_chr18_63770418_63810370	63783186	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG02040.hp1 others(2): Show HG00544.hp1 HG00741.hp2 HG02040.hp1 HG02818.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0155 others(2): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0155 a0001c0001t0003g0218 a0001c0001t0007g0100	5	432	0.0116	-22	c.168 others(37): Show c.168+674_168+695delGAGAGAGAGAGAGAGAGAGAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783214	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	432	0.0023	-22	c.168 others(37): Show c.168+678_168+699delGAGAGAGAGAGAGAGAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783218	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	432	0.0023	-22	c.168 others(37): Show c.168+682_168+703delGAGAGAGAGAGAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783226	GAGAGAGA others(15): Show GAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	432	0.0023	-22	c.168 others(37): Show c.168+690_168+711delGAGAGAAAGAAAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPIND1_chr22_20769113_20792720	20770579	GACACACA others(15): Show GACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02647.hp2 HG00735.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0002t0001g0001 a0001c0001t0001g0007 a0001c0002t0001g0001	2	412	0.0049	-22	c.-35 others(33): Show c.-3582_-3561delACACACACACACACACACACAC	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding		3533		chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101140262	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	436	0.0023	-22	c.28 others(33): Show c.2821_*2842delAGAAAGAAAGAAAGAAAGAAAG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1016		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101140274	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01978.hp1 HG02080.hp1 others(16): Show HG01192.hp2 HG01978.hp1 HG02080.hp1 HG02129.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03704.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18982.hp2 NA18983.hp2 NA19054.hp1 NA19070.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0029 a0002c0003t0004 a0003c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0038 a0001c0001t0002g0083 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0038 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0281 a0001c0001t0003g0047 a0001c0001t0003g0063 a0001c0001t0003g0289 a0001c0001t0003g0365 a0001c0001t0012g0236 a0001c0001t0012g0260 a0001c0001t0029g0360 a0002c0003t0004g0342 a0003c0002t0002g0046 a0003c0002t0002g0222 a0003c0002t0002g0271 a0003c0002t0002g0276	19	436	0.0436	-22	c.28 others(33): Show c.2833_*2854delAGAAAGAAAGAAAGAAAGAAAG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1028		chr7	TogoVar
SERPINI1_chr3_167730721_167830569	167772887	TATATATA others(15): Show TATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01069.hp1 others(7): Show HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01433.hp2 HG01928.hp2 HG02293.hp2 HG02622.hp2 HG02647.hp2 HG02965.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0037 a0002c0002t0001g0048 others(7): Show a0002c0002t0001g0014 a0002c0002t0001g0037 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0193	10	232	0.0431	-22	c.-18 others(41): Show c.-18-16222_-18-16201delTATATACACACACACACACACA	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167781222	TAGCTAGT others(15): Show TAGCTAGTATTAACCAAAGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02486.hp1 HG03130.hp2 others(1): Show HG01433.hp1 HG02486.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0004t0001g0197 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0004t0001g0197 a0001c0004t0001g0201	4	232	0.0172	-22	c.-18 others(39): Show c.-18-7885_-18-7864delTAGTATTAACCAAAGTTAAAGC	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI2_chr3_167436933_167479042	167456150	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	352	0.0028	-22	c.867 others(39): Show c.867-3139_867-3118delCACACACACACACACACACACA	SERPINI2	ENSG00000114204.16	transcript	ENST00000264677.9	protein_coding	5/8			chr3	TogoVar
SERTAD1_chr19_40416589_40430992	40418206	TTTTCTTT others(15): Show TTTTCTTTTCTTTTCTTTCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	368	0.0027	-22	c.46 others(33): Show c.4608_*4629delGGAAGAAAGAAAAGAAAAGAAA	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		3382		chr19	TogoVar
SESN3_chr11_95160513_95236202	95160838	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0027 a0001c0001t0055g0027	1	392	0.0026	-22	c.12 others(35): Show c.12395_*12416delGTGTGTGTGTGTGTGTGTGTGT	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding		4674		chr11	TogoVar
SETBP1_chr18_44675888_45073510	44692325	CCCCATTT others(15): Show CCCCATTTCCAAATGAGACTTGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	140	0.0071	-22	c.-17 others(41): Show c.-172-8849_-172-8828delCCCATTTCCAAATGAGACTTGA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	1/5			chr18	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01175.hp1 others(34): Show HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02004.hp2 HG02083.hp1 HG02109.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18989.hp2 NA19000.hp2 NA19010.hp2 NA19066.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0005 a0001c0012 others(8): Show a0001c0001 a0001c0005 a0001c0012 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0005t0001 a0001c0012t0003 a0001c0016t0001 a0002c0002t0001 a0002c0002t0014 a0003c0003t0001 a0003c0003t0013 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0005c0006t0001 a0005c0006t0022 a0006c0007t0002 a0007c0008t0002 a0011c0013t0021	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 others(34): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0002g0094 a0001c0001t0002g0129 a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0006g0092 a0001c0001t0009g0077 a0001c0001t0010g0131 a0001c0005t0001g0084 a0001c0012t0003g0069 a0001c0016t0001g0101 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0121 a0002c0002t0014g0130 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0013g0103 a0004c0004t0001g0003 a0004c0004t0001g0085 a0004c0004t0002g0078 a0004c0004t0007g0070 a0005c0006t0001g0075 a0005c0006t0022g0089 a0006c0007t0002g0114 a0007c0008t0002g0080 a0007c0008t0002g0086 a0011c0013t0021g0090	37	140	0.2643	-22	c.486 others(39): Show c.486+1541_486+1562delTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44806623	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	140	0.0071	-22	c.487 others(41): Show c.487-62587_487-62566delTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868689	AGAGAGAG others(15): Show AGAGAGAGAGGACGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01167.hp1 others(7): Show HG00639.hp2 HG00735.hp1 HG01167.hp1 HG01175.hp2 HG02602.hp1 HG02615.hp1 HG03654.hp1 NA18963.hp2 NA18981.hp2 NA19030.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 a0003c0003t0016 a0004c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0068 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0068 a0003c0003t0001g0063 a0003c0003t0001g0109 a0003c0003t0002g0116 a0003c0003t0008g0009 a0003c0003t0008g0051 a0003c0003t0016g0110 a0004c0004t0001g0003	10	140	0.0714	-22	c.487 others(37): Show c.487-537_487-516delAGAGAGGACGGAAGGAAGGGAG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989886	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0005c0006t0022 a0001c0001t0003 a0005c0006t0022	a0001c0001t0003g0037 a0005c0006t0022g0089 a0001c0001t0003g0037 a0005c0006t0022g0089	2	140	0.0143	-22	c.400 others(43): Show c.4000+36547_4000+36568delAAAAAAAAAAAAAAAAAAAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5			chr18	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0112 a0001c0002t0003g0113	2	308	0.0065	-22	c.709 others(41): Show c.7099-1666_7099-1645delTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD5_chr3_9392615_9483154	9426212	CCTTTTTT others(15): Show CCTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 NA19011.hp1 HG02145.hp2 HG03139.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0100 a0001c0001t0020g0153 a0001c0001t0020g0154 a0001c0001t0004g0100 a0001c0001t0020g0153 a0001c0001t0020g0154	3	240	0.0125	-22	c.-11 others(41): Show c.-117+1687_-117+1708delCTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETDB1_chr1_150921363_150969737	150933757	TTTTCTTT others(15): Show TTTTCTTTTTCTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	352	0.0028	-22	c.412 others(39): Show c.412+3643_412+3664delCTTTTTCTTTTTCTTTTTCTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49440715	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02056.hp2 HG02135.hp1 others(6): Show HG02015.hp2 HG02056.hp2 HG02135.hp1 NA18940.hp1 NA18955.hp2 NA18977.hp1 NA18989.hp2 NA19057.hp2 NA19081.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0004 a0008c0013t0004 a0001c0002t0004 a0008c0013t0004	a0001c0002t0004g0353 a0001c0002t0004g0357 a0001c0002t0004g0358 others(6): Show a0001c0002t0004g0353 a0001c0002t0004g0357 a0001c0002t0004g0358 a0001c0002t0004g0359 a0001c0002t0004g0362 a0001c0002t0004g0363 a0001c0002t0004g0364 a0001c0002t0004g0379 a0008c0013t0004g0356	9	406	0.0222	-22	c.-44 others(33): Show c.-4483_-4462delGTGTGTGTGTGTGTGTGTGTGT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3558		chr13	TogoVar
SEZ6L2_chr16_29866159_29904550	29874547	CTTGTTTT others(15): Show CTTGTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18747.hp1 NA19066.hp1 others(1): Show HG02080.hp1 NA18747.hp1 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0158 a0001c0001t0001g0193 a0001c0001t0001g0011 a0001c0001t0001g0158 a0001c0001t0001g0193	4	308	0.0130	-22	c.210 others(39): Show c.2105-840_2105-819delAAAAAAAAAAAAAAAAAAACAA	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding	12/17			chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26304362	AAAGAAAG others(15): Show AAAGAAAGAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01257.hp2 others(3): Show HG00639.hp1 HG00738.hp1 HG01257.hp2 HG02486.hp2 HG03486.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0007 a0002c0002 others(1): Show a0001c0003 a0001c0007 a0002c0002 a0004c0014	a0001c0003t0001 a0001c0007t0001 a0001c0007t0003 others(3): Show a0001c0003t0001 a0001c0007t0001 a0001c0007t0003 a0002c0002t0020 a0004c0014t0001 a0004c0014t0028	a0001c0003t0001g0028 a0001c0007t0001g0153 a0001c0007t0003g0231 others(3): Show a0001c0003t0001g0028 a0001c0007t0001g0153 a0001c0007t0003g0231 a0002c0002t0020g0123 a0004c0014t0001g0005 a0004c0014t0028g0006	6	240	0.0250	-22	c.134 others(41): Show c.1349-1614_1349-1593delGAAAGAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26387729	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02647.hp1 HG02886.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0014 a0002c0018t0014	a0002c0018t0014g0105 a0002c0018t0014g0125 a0002c0018t0014g0105 a0002c0018t0014g0125	2	240	0.0083	-22	c.74 others(33): Show c.7435_*7456delTGTGTGTGTGTGTGTGTGTGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding		4134		chr22	TogoVar
SEZ6_chr17_28949905_29011033	29005078	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp2 NA20300.hp1 HG02109.hp1 HG03579.hp2 NA20300.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0005 a0006c0007t0003 a0006c0007t0005	a0006c0007t0003g0031 a0006c0007t0003g0238 a0006c0007t0005g0031 a0006c0007t0003g0031 a0006c0007t0003g0238 a0006c0007t0005g0031	3	300	0.0100	-22	c.55+ others(35): Show c.55+715_55+736delACACACACACACACACACACAC	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding	1/16			chr17	TogoVar
SF3B3_chr16_70518816_70582668	70527726	CGTTTTTG others(15): Show CGTTTTTGTTTTTTGTTTGTTTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0181 a0001c0002t0006g0181	1	342	0.0029	-22	c.70+ others(37): Show c.70+1035_70+1056delTGTTTGTTTTGTTTTTGTTTTT	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31582222	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02280.hp2 HG02630.hp2 HG02647.hp2	a0002 a0010 a0002 a0010	a0002c0044 a0010c0021 a0002c0044 a0010c0021	a0002c0044t0003 a0010c0021t0001 a0002c0044t0003 a0010c0021t0001	a0002c0044t0003g0032 a0010c0021t0001g0030 a0010c0021t0001g0031 a0002c0044t0003g0032 a0010c0021t0001g0030 a0010c0021t0001g0031	3	322	0.0093	-22	c.124 others(41): Show c.1249-1651_1249-1630delATATATATATATATTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928619	CATATATA others(15): Show CATATATACATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02698.hp2 HG02738.hp2 others(11): Show HG00673.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0273 others(11): Show a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287	14	328	0.0427	-22	c.898 others(37): Show c.898-300_898-279delATATGTATATATATGTATATAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7228734	TCCTTTCT others(15): Show TCCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	144	0.0069	-22	c.112 others(39): Show c.1121-819_1121-798delGAGAGAGAGAGAGAGAGAAAGG	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7269707	AGTGTGTG others(15): Show AGTGTGTGCGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01192.hp2 others(13): Show HG00408.hp1 HG00642.hp2 HG01192.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18995.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0083 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0084 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0003g0086 a0001c0001t0015g0085 a0001c0001t0016g0029 a0001c0001t0019g0051 a0001c0001t0019g0074 a0001c0001t0031g0136 a0001c0001t0034g0133 a0001c0001t0035g0082	16	144	0.1111	-22	c.870 others(39): Show c.870+7163_870+7184delACACACACACACACGCACACAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7392983	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	144	0.0069	-22	c.-51 others(41): Show c.-51-11056_-51-11035delTATATATATATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	332	0.0060	-22	c.42 others(33): Show c.4290_*4311delTCTCTCTCTCTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3793		chr1	TogoVar
SFRP1_chr8_41256962_41314473	41313346	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	384	0.0026	-22	c.-42 others(33): Show c.-4209_-4188delAAAAAAAAAAAAAAAAAAAAAA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding		3874		chr8	TogoVar
SFSWAP_chr12_131706090_131804738	131795995	GAGGGGGA others(15): Show GAGGGGGAGGGGAGGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0044 a0001c0012t0001g0045 a0001c0012t0001g0044 a0001c0012t0001g0045	2	318	0.0063	-22	c.253 others(41): Show c.2535-1182_2535-1161delAGGGGGAGGGGAGGGGAGGGGA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17			chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131795997	GGGGGAGG others(15): Show GGGGGAGGGGAGGGGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02071.hp2 HG02602.hp1 HG01099.hp1 HG02071.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0198 a0001c0001t0001g0261 a0001c0001t0002g0282 a0001c0001t0001g0198 a0001c0001t0001g0261 a0001c0001t0002g0282	3	318	0.0094	-22	c.253 others(41): Show c.2535-1176_2535-1155delAGGGGAGGGGAGGGGAGAGGGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166346718	CTCCTTAT others(15): Show CTCCTTATTGGAATATCCCCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	388	0.0026	-22	c.-42 others(33): Show c.-4259_-4238delAAAGGGGATATTCCAATAAGGA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4174		chr6	TogoVar
SFTPC_chr8_22156798_22169479	22165882	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01070.hp2 others(2): Show HG00099.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	5	466	0.0107	-22	c.16 others(33): Show c.1636_*1657delGTGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN1_chr5_175473560_175534742	175500403	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	372	0.0027	-22	c.164 others(39): Show c.164+8166_164+8187delCACACACACACACACACACACA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524123	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19068.hp1 NA21309.hp1 HG01069.hp2 NA19068.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0001t0001 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0249 a0001c0001t0010g0139 a0001c0001t0016g0134 a0001c0001t0001g0249 a0001c0001t0010g0139 a0001c0001t0016g0134	3	372	0.0081	-22	c.872 others(39): Show c.872+1703_872+1724delAATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175529935	ATAAAGGC others(15): Show ATAAAGGCACACCCACCCACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0365 a0001c0002t0002g0365	1	372	0.0027	-22	c.32 others(33): Show c.3202_*3223delTAAAGGCACACCCACCCACCCC	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding		194		chr5	TogoVar
SFXN3_chr10_101026234_101046241	101044717	CATATATA others(15): Show CATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	444	0.0023	-22	c.51 others(33): Show c.5133_*5154delATATATATATATATATATATAT	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding		3477		chr10	TogoVar
SFXN3_chr10_101026234_101046241	101044741	TATATATA others(15): Show TATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01070.hp1 others(30): Show HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01123.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18999.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018	a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0021 others(12): Show a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0052 a0001c0001t0008g0009 a0001c0001t0008g0086 a0001c0001t0012g0012 a0001c0001t0018g0012	33	444	0.0743	-22	c.51 others(33): Show c.5157_*5178delATATATATATATATATATATAC	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding		3501		chr10	TogoVar
SFXN5_chr2_72937036_73076712	73012649	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0238 a0001c0002t0023g0238	1	250	0.0040	-22	c.357 others(39): Show c.357+7568_357+7589delGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	6/13			chr2	TogoVar
SGCB_chr4_52015706_52043299	52031392	CTGTGTGT others(15): Show CTGTGTGTGTGTGTATGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0004g0005 a0001c0001t0004g0046 a0001c0001t0004g0079 a0001c0001t0007g0021 a0001c0001t0007g0061 a0001c0001t0007g0081 a0001c0001t0017g0069	119	368	0.3234	-22	c.244 others(39): Show c.244-1551_244-1530delCACACACATACACACACACACA	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	2/5			chr4	TogoVar
SGCB_chr4_52015706_52043299	52034331	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02572.hp2 HG02809.hp1 others(2): Show HG01099.hp2 HG02572.hp2 HG02809.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0112 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136	5	368	0.0136	-22	c.34- others(35): Show c.34-713_34-692delTTTTTTTTTTTTTTTTTTTTTT	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	1/5			chr4	TogoVar
SGCD_chr5_156322164_156772788	156504404	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 NA18906.hp2 HG02055.hp1 HG02615.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0050 a0001c0002t0057 a0001c0001t0041 a0001c0002t0050 a0001c0002t0057	a0001c0001t0041g0028 a0001c0002t0050g0072 a0001c0002t0057g0110 a0001c0001t0041g0028 a0001c0002t0050g0072 a0001c0002t0057g0110	3	150	0.0200	-22	c.193 others(39): Show c.193-4195_193-4174delATATATATATATATATATATGT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156524094	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01891.hp1 others(22): Show HG00558.hp2 HG01109.hp1 HG01891.hp1 HG01981.hp1 HG02083.hp2 HG02155.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18953.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18985.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0001t0040 a0001c0001t0045 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0024 a0001c0002t0044 a0001c0002t0053 a0001c0002t0055	a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0122 others(22): Show a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0006g0041 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0134 a0001c0001t0007g0138 a0001c0001t0009g0067 a0001c0001t0012g0010 a0001c0001t0020g0017 a0001c0001t0029g0024 a0001c0001t0040g0131 a0001c0001t0045g0137 a0001c0002t0004g0092 a0001c0002t0008g0101 a0001c0002t0008g0105 a0001c0002t0010g0005 a0001c0002t0024g0063 a0001c0002t0044g0026 a0001c0002t0053g0085 a0001c0002t0055g0091	25	150	0.1667	-22	c.294 others(41): Show c.294+15424_294+15445delATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCE_chr7_94579980_94661133	94604806	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG03041.hp1 HG02145.hp1 HG02976.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0002c0003t0001g0275 a0001c0001t0001g0144 a0001c0001t0001g0145 a0002c0003t0001g0275	3	390	0.0077	-22	c.663 others(39): Show c.663-1376_663-1355delATATATATATATATATATATAT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	5/10			chr7	TogoVar
SGCG_chr13_23175979_23330162	23299407	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02970.hp2 HG01884.hp1 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0008 a0001c0007t0008 a0001c0004t0008 a0001c0007t0008	a0001c0004t0008g0068 a0001c0007t0008g0109 a0001c0007t0008g0205 a0001c0004t0008g0068 a0001c0007t0008g0109 a0001c0007t0008g0205	3	354	0.0085	-22	c.578 others(39): Show c.578+3949_578+3970delATATATATATATATATATATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14125248	AAGGTGGG others(15): Show AAGGTGGGTGGTTCACAAGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG03195.hp1 others(2): Show HG02055.hp2 HG02922.hp2 HG03195.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0042 a0001c0001t0058 others(2): Show a0001c0001t0039 a0001c0001t0042 a0001c0001t0058 a0001c0001t0085 a0001c0001t0087	a0001c0001t0039g0036 a0001c0001t0042g0040 a0001c0001t0058g0097 others(2): Show a0001c0001t0039g0036 a0001c0001t0042g0040 a0001c0001t0058g0097 a0001c0001t0085g0059 a0001c0001t0087g0088	5	102	0.0490	-22	c.548 others(41): Show c.548-17035_548-17014delCGACCTTGTGAACCACCCACCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar

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