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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPRR5_chr1_152942206_152954255	152948713	TCCCCAGC others(14): Show TCCCCAGCAGTGCTGTCCCCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02109.hp2 HG02145.hp2 others(5): Show HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02809.hp2 HG03209.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0008 a0003c0004t0005g0014 a0003c0004t0005g0021 a0003c0004t0005g0008 a0003c0004t0005g0014 a0003c0004t0005g0021	8	436	0.0184	-21	c.174 others(28): Show c.174_194delTCCCCCACCCCAGCAGTGCTG	p.Pro others(11): Show p.Pro59_Cys65del	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	235/762	174/327	58/108		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRY3_chrX_155607586_155787459	155692164	AATAGTAA others(14): Show AATAGTAAATGGGTACAGCTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0067 a0001c0002t0028 a0001c0001t0067 a0001c0002t0028	a0001c0001t0067g0094 a0001c0002t0028g0069 a0001c0001t0067g0094 a0001c0002t0028g0069	2	231	0.0087	-21	c.-28 others(42): Show c.-281-75794_-281-75774delGTAAATGGGTACAGCTTTATA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155755236	CCAATGTC others(14): Show CCAATGTCTTTAAATTGCTTCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 NA18906.hp1 others(1): Show HG01891.hp2 HG03098.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0040	a0001c0001t0007g0084 a0001c0001t0010g0104 a0001c0001t0019g0208 others(1): Show a0001c0001t0007g0084 a0001c0001t0010g0104 a0001c0001t0019g0208 a0001c0001t0040g0129	4	231	0.0173	-21	c.-28 others(42): Show c.-281-12723_-281-12703delATGTCTTTAAATTGCTTCGCA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB4_chr3_141046347_141153611	141134030	CTTTTCTT others(14): Show CTTTTCTTTTTTTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	254	0.0039	-21	c.695 others(40): Show c.695-13093_695-13073delCTTTTTTCTTTTTTTTTTTTT		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTBN4_chr19_40462001_40581464	40521350	CTATTGTT others(14): Show CTATTGTTATTACATTATAACA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0170 a0004c0027t0001g0170	1	234	0.0043	-21	c.365 others(40): Show c.3654+1203_3654+1223delTGTTATTACATTATAACATAT		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	16/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTLC2_chr14_77500997_77621637	77616211	AACCCAGA others(14): Show AACCCAGAGCTCCGGGAGTAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0230 a0001c0010t0004g0230	1	246	0.0041	-21	c.132 others(36): Show c.132+216_132+236delCTTACTCCCGGAGCTCTGGGT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11						chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34429928	TCTTCCAA others(14): Show TCTTCCAAGGCTCTAAATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(76): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03491.hp1 HG03669.hp1 HG03704.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 others(76): Show a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0196 a0001c0001t0002g0259 a0001c0001t0002g0288 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0010g0036 a0001c0001t0010g0063 a0001c0001t0010g0067 a0001c0001t0012g0043 a0001c0001t0012g0059 a0001c0001t0019g0118 a0001c0001t0020g0119	79	344	0.2297	-21	c.52 others(32): Show c.5252_*5272delGTATATTTAGAGCCTTGGAAG		SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding					2859		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369274	CTTCTTTC others(14): Show CTTCTTTCTTTCTTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02970.hp1 others(2): Show HG02109.hp1 HG02717.hp1 HG02970.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0190	5	412	0.0121	-21	c.-12 others(40): Show c.-126+2140_-126+2160delAGAAAGAAAAGAAAGAAAGAA		SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2						chr3	TogoVar
SRD5A2_chr2_31517480_31585938	31583642	AAAAAAAA others(14): Show AAAAAAAAACCAAAAAAAAAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0359 a0001c0001t0007g0359	1	386	0.0026	-21	c.-27 others(32): Show c.-2763_-2743delGCTTTTTTTTTGGTTTTTTTT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding					2705		chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02258.hp2 HG02622.hp1 others(5): Show HG00544.hp2 HG02258.hp2 HG02622.hp1 HG02818.hp1 HG03492.hp1 NA18983.hp1 NA18999.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0031 a0001c0001t0054 a0001c0001t0061	a0001c0001t0003g0023 a0001c0001t0005g0103 a0001c0001t0009g0201 others(5): Show a0001c0001t0003g0023 a0001c0001t0005g0103 a0001c0001t0009g0201 a0001c0001t0010g0001 a0001c0001t0012g0062 a0001c0001t0031g0072 a0001c0001t0054g0001 a0001c0001t0061g0151	8	384	0.0208	-21	c.-32 others(32): Show c.-3221_-3201delAAAAAAAAAAAAAAAAAAAAA		SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding					3126		chr4	TogoVar
SREK1IP1_chr5_64713148_64773691	64758414	CATTGTAC others(14): Show CATTGTACTCTAATCCCATTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0072 a0001c0003t0008g0072	1	342	0.0029	-21	c.14- others(36): Show c.14-4073_14-4053delACAATGGGATTAGAGTACAAT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	1/4						chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63949396	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01496.hp2 others(4): Show HG00099.hp1 HG00639.hp1 HG01496.hp2 HG01517.hp2 HG03195.hp1 HG04184.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0067 a0001c0001t0076 a0001c0002t0012 others(4): Show a0001c0001t0067 a0001c0001t0076 a0001c0002t0012 a0001c0002t0029 a0001c0002t0040 a0001c0002t0042 a0002c0004t0151	a0001c0001t0067g0100 a0001c0001t0076g0131 a0001c0002t0012g0145 others(4): Show a0001c0001t0067g0100 a0001c0001t0076g0131 a0001c0002t0012g0145 a0001c0002t0029g0115 a0001c0002t0040g0019 a0001c0002t0042g0153 a0002c0004t0151g0122	7	170	0.0412	-21	c.68- others(38): Show c.68-34524_68-34504delATTATTATTATTATTATTATT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121249564	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0260 a0001c0003t0004g0260	1	274	0.0037	-21	c.68- others(38): Show c.68-35237_68-35217delATATATATATATATATTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249566	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0264 a0001c0003t0053g0264	1	274	0.0037	-21	c.68- others(38): Show c.68-35235_68-35215delATATATATATATATTTTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206235245	ATTCCCCT others(14): Show ATTCCCCTTTGCAGCTTGTATC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0002c0009 a0003c0010 a0004c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0019 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0024 a0001c0002t0027 a0001c0002t0037 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0022 a0001c0003t0025 a0001c0003t0026 a0001c0003t0028 a0001c0003t0029 a0001c0003t0032 a0001c0003t0035 a0001c0004t0003 a0001c0004t0008 a0001c0004t0011 a0001c0004t0018 a0001c0004t0033 a0001c0004t0034 a0001c0005t0001 a0001c0006t0009 a0001c0006t0030 a0001c0007t0005 a0001c0008t0003 a0001c0013t0016 a0002c0009t0013 a0003c0010t0001 a0004c0011t0001 a0005c0012t0023	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 others(178): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0002g0024 a0001c0001t0004g0110 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0012g0081 a0001c0001t0019g0157 a0001c0001t0031g0126 a0001c0001t0036g0123 a0001c0001t0038g0180 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0087 a0001c0002t0002g0099 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0004g0070 a0001c0002t0005g0064 a0001c0002t0005g0078 a0001c0002t0005g0152 a0001c0002t0012g0038 a0001c0002t0012g0166 a0001c0002t0013g0017 a0001c0002t0013g0142 a0001c0002t0014g0041 a0001c0002t0014g0134 a0001c0002t0015g0020 a0001c0002t0015g0075 a0001c0002t0020g0008 a0001c0002t0024g0086 a0001c0002t0027g0009 a0001c0002t0037g0179 a0001c0003t0002g0060 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0079 a0001c0003t0004g0118 a0001c0003t0004g0120 a0001c0003t0004g0135 a0001c0003t0004g0140 a0001c0003t0005g0132 a0001c0003t0005g0164 a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0176 a0001c0003t0006g0177 a0001c0003t0006g0178 a0001c0003t0007g0050 a0001c0003t0007g0067 a0001c0003t0007g0125 a0001c0003t0007g0144 a0001c0003t0007g0169 a0001c0003t0007g0170 a0001c0003t0010g0158 a0001c0003t0010g0159 a0001c0003t0010g0160 a0001c0003t0014g0168 a0001c0003t0016g0076 a0001c0003t0017g0003 a0001c0003t0021g0129 a0001c0003t0022g0136 a0001c0003t0025g0033 a0001c0003t0026g0143 a0001c0003t0028g0077 a0001c0003t0029g0171 a0001c0003t0032g0165 a0001c0003t0035g0122 a0001c0004t0003g0028 a0001c0004t0003g0034 a0001c0004t0003g0043 a0001c0004t0003g0044 a0001c0004t0003g0048 a0001c0004t0003g0054 a0001c0004t0003g0055 a0001c0004t0003g0056 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0059 a0001c0004t0003g0062 a0001c0004t0003g0066 a0001c0004t0003g0080 a0001c0004t0003g0111 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0137 a0001c0004t0003g0146 a0001c0004t0003g0182 a0001c0004t0008g0047 a0001c0004t0008g0051 a0001c0004t0008g0052 a0001c0004t0008g0061 a0001c0004t0008g0065 a0001c0004t0011g0007 a0001c0004t0011g0019 a0001c0004t0011g0039 a0001c0004t0018g0029 a0001c0004t0018g0030 a0001c0004t0033g0092 a0001c0004t0034g0085 a0001c0005t0001g0006 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0119 a0001c0005t0001g0141 a0001c0006t0009g0001 a0001c0006t0009g0130 a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162 a0001c0007t0005g0115 a0001c0007t0005g0138 a0001c0007t0005g0139 a0001c0008t0003g0100 a0001c0008t0003g0106 a0001c0013t0016g0121 a0002c0009t0013g0018 a0003c0010t0001g0040 a0004c0011t0001g0101 a0005c0012t0023g0131	181	182	0.9945	-21	c.67+ others(38): Show c.67+29213_67+29233delCCTTTGCAGCTTGTATCTTCC		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372956	TTTTCTTT others(14): Show TTTTCTTTCCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03540.hp2 HG02602.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0153 a0001c0001t0001g0088 a0001c0001t0001g0153	2	182	0.0110	-21	c.424 others(40): Show c.424-11049_424-11029delCTTTCTTTCTTTCTTTCTTTC		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9123380	TATATATA others(14): Show TATATATATACATACACAATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0021 a0003c0008 a0005c0018 a0006c0019 a0007c0020 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0004 a0001c0003t0007 a0001c0003t0018 a0001c0003t0053 a0001c0004t0009 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0006 a0001c0007t0026 a0001c0009t0012 a0001c0011t0022 a0001c0012t0001 a0001c0021t0012 a0003c0008t0002 a0005c0018t0019 a0006c0019t0017 a0007c0020t0002 a0008c0015t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 others(124): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0063 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0106 a0001c0001t0003g0171 a0001c0001t0003g0195 a0001c0001t0003g0202 a0001c0001t0004g0073 a0001c0001t0005g0015 a0001c0001t0005g0033 a0001c0001t0005g0080 a0001c0001t0005g0135 a0001c0001t0005g0228 a0001c0001t0006g0108 a0001c0001t0006g0209 a0001c0001t0007g0035 a0001c0001t0007g0066 a0001c0001t0007g0082 a0001c0001t0008g0054 a0001c0001t0008g0086 a0001c0001t0009g0087 a0001c0001t0009g0178 a0001c0001t0011g0200 a0001c0001t0013g0022 a0001c0001t0013g0111 a0001c0001t0013g0211 a0001c0001t0014g0177 a0001c0001t0015g0154 a0001c0001t0016g0053 a0001c0001t0017g0133 a0001c0001t0019g0124 a0001c0001t0020g0069 a0001c0001t0021g0129 a0001c0001t0021g0189 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0025g0040 a0001c0001t0025g0088 a0001c0001t0032g0055 a0001c0001t0033g0050 a0001c0001t0034g0065 a0001c0001t0036g0204 a0001c0001t0037g0217 a0001c0001t0039g0196 a0001c0001t0040g0023 a0001c0001t0041g0083 a0001c0001t0043g0101 a0001c0001t0045g0123 a0001c0001t0046g0223 a0001c0001t0050g0093 a0001c0001t0051g0190 a0001c0001t0052g0188 a0001c0002t0004g0037 a0001c0003t0007g0212 a0001c0003t0018g0039 a0001c0003t0053g0205 a0001c0004t0009g0103 a0001c0005t0001g0008 a0001c0005t0002g0006 a0001c0006t0001g0192 a0001c0006t0006g0151 a0001c0007t0026g0005 a0001c0009t0012g0034 a0001c0011t0022g0010 a0001c0011t0022g0181 a0001c0012t0001g0168 a0001c0021t0012g0014 a0003c0008t0002g0176 a0005c0018t0019g0060 a0006c0019t0017g0089 a0007c0020t0002g0141 a0008c0015t0001g0193	127	228	0.5570	-21	c.260 others(38): Show c.260+1324_260+1344delGTATTGTGTATGTATATATAT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21						chr3	TogoVar
SRMS_chr20_63533489_63552749	63535860	CCCCTCCT others(14): Show CCCCTCCTCACCTGGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	356	0.0028	-21	c.49 others(32): Show c.4937_*4957delCGGGAGGCCAGGTGAGGAGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2628		chr20	TogoVar
SRP14_chr15_40030690_40044181	40036356	TTGTTGCT others(14): Show TTGTTGCTGCTGTTGTTGGTGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0044 a0006c0010t0002g0044	1	426	0.0024	-21	c.367 others(28): Show c.367_387delGCACCAACAACAGCAGCAACA	p.Ala others(13): Show p.Ala123_Thr129del	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	5/5	452/1119	367/411	123/136			chr15	TogoVar
SRP54_chr14_34977992_35034567	35007623	TTAAAATA others(14): Show TTAAAATATATTTATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02622.hp1 HG00673.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0146 a0001c0001t0001g0095 a0001c0001t0001g0146	2	396	0.0051	-21	c.360 others(36): Show c.360+250_360+270delTATTATAATAAAATATATTTA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	ATATATAA others(14): Show ATATATAATATACATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01168.hp2 others(6): Show HG00735.hp1 HG00741.hp2 HG01168.hp2 HG01433.hp1 HG01934.hp2 HG03688.hp1 HG03942.hp2 NA18747.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0211 a0001c0002t0001g0222 a0001c0002t0001g0244 others(6): Show a0001c0002t0001g0211 a0001c0002t0001g0222 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0278 a0001c0006t0001g0024 a0001c0006t0001g0025	9	365	0.0247	-21	c.562 others(36): Show c.562-950_562-930delATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	ATATATAA others(14): Show ATATATAATATACATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG00099.hp2 HG01515.hp2 HG01517.hp1 HG03139.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0208 a0001c0002t0005g0017 a0001c0002t0005g0295 others(1): Show a0001c0002t0001g0208 a0001c0002t0005g0017 a0001c0002t0005g0295 a0001c0002t0005g0299	5	365	0.0137	-21	c.562 others(38): Show c.562-1062_562-1042delATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76072432	ACCGCCGC others(14): Show ACCGCCGCCGCCACTGCCGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp1 NA18960.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0340 a0011c0019t0002g0340	1	365	0.0027	-21	c.39_ others(26): Show c.39_59delCGGCGGCAGTGGCGGCGGCGG	p.Gly others(11): Show p.Gly14_Gly20del	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/16	85/2831	39/1884	13/627			chr17	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02056.hp2 others(5): Show HG00408.hp1 HG00621.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp2 NA18991.hp1 NA19003.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0005g0024 a0001c0001t0005g0234 others(3): Show a0001c0001t0001g0024 a0001c0001t0005g0024 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237	8	474	0.0169	-21	c.141 others(36): Show c.141+876_141+896delTTTTTTTTTTTTTTTTTTTTT		SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPX_chrX_38144339_38225871	38163020	CAGACATT others(14): Show CAGACATTGTGCTAGACCCTGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0112 a0006c0008t0001g0112	1	257	0.0039	-21	c.653 others(38): Show c.653+1728_653+1748delTCAGGGTCTAGCACAATGTCT		SRPX	ENSG00000101955.15	transcript	ENST00000378533.4	protein_coding	5/9						chrX	TogoVar
SRRD_chr22_26478877_26499658	26483980	GGAGGCGG others(14): Show GGAGGCGGCGCCCCGGGGGAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(374): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0003 a0003c0005 others(2): Show a0001c0001 a0003c0003 a0003c0005 a0006c0008 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0003c0003t0012 a0003c0003t0016 a0003c0003t0022 a0003c0003t0030 a0003c0005t0011 a0006c0008t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(124): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0004g0009 a0001c0001t0005g0019 a0001c0001t0005g0043 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0003 a0001c0001t0006g0016 a0001c0001t0006g0024 a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0041 a0001c0001t0013g0002 a0001c0001t0013g0006 a0001c0001t0013g0011 a0001c0001t0014g0002 a0001c0001t0014g0007 a0001c0001t0023g0006 a0001c0001t0024g0083 a0001c0001t0025g0001 a0001c0001t0026g0006 a0001c0001t0027g0013 a0001c0001t0028g0001 a0001c0001t0029g0006 a0001c0001t0031g0012 a0001c0001t0032g0012 a0003c0003t0001g0025 a0003c0003t0003g0004 a0003c0003t0003g0042 a0003c0003t0003g0098 a0003c0003t0004g0010 a0003c0003t0004g0025 a0003c0003t0004g0032 a0003c0003t0004g0049 a0003c0003t0004g0087 a0003c0003t0004g0089 a0003c0003t0004g0107 a0003c0003t0009g0010 a0003c0003t0009g0025 a0003c0003t0012g0046 a0003c0003t0012g0120 a0003c0003t0016g0045 a0003c0003t0022g0004 a0003c0003t0030g0088 a0003c0005t0011g0031 a0006c0008t0001g0020 a0007c0006t0001g0119	377	448	0.8415	-21	c.129 others(28): Show c.129_149delGAGAGAGGCGGCGCCCCGGGG	p.Arg others(11): Show p.Arg44_Gly50del	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	1/7	143/4020	129/1020	43/339		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24663878	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19055.hp2 HG00438.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0132 a0001c0001t0002g0065 a0001c0001t0002g0132	2	352	0.0057	-21	c.162 others(40): Show c.1628+1092_1628+1112delTAATAATAATAATAATAATAA		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM3_chr7_76196896_76292287	76211816	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG02559.hp2 others(9): Show HG00639.hp1 HG01192.hp1 HG02559.hp2 HG02723.hp1 HG02897.hp1 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 others(9): Show a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231	12	324	0.0370	-21	c.-40 others(38): Show c.-40+9770_-40+9790delTTATTATTATTATTATTATTA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76220606	ACGGCAGG others(14): Show ACGGCAGGGAAAGGGTCAGCCC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	324	0.0031	-21	c.-39 others(40): Show c.-39-14421_-39-14401delCGGCAGGGAAAGGGTCAGCCC		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14						chr7	TogoVar
SRSF11_chr1_70216380_70258052	70243336	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	338	0.0059	-21	c.801 others(38): Show c.801-1331_801-1311delAAAAAAAAAAAAAAAAAAAAA		SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF6_chr20_43452896_43469243	43461337	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0002 a0001c0002t0049g0002	1	464	0.0022	-21	c.29 others(30): Show c.291_*311delTTTTTTTTTTTTTTTTTTTTT		SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6				291	INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18_chr18_26011253_26095613	26060771	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0105 a0001c0001t0005g0106	2	318	0.0063	-21	c.232 others(38): Show c.232-3050_232-3030delTTTTTTTTTTTTTTTTTTTTT		SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10						chr18	TogoVar
SSBP2_chr5_81407804_81756097	81496794	TTTGTAAC others(14): Show TTTGTAACACCCTGCCATAGGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0144 a0001c0001t0075g0144	1	206	0.0049	-21	c.373 others(38): Show c.373-7506_373-7486delTCCTATGGCAGGGTGTTACAA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81686867	AAAAAAGA others(14): Show AAAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02280.hp1 HG02280.hp2 others(1): Show HG00099.hp2 HG02280.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 others(1): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 a0001c0002t0001	a0001c0001t0007g0167 a0001c0001t0025g0186 a0001c0001t0033g0050 others(1): Show a0001c0001t0007g0167 a0001c0001t0025g0186 a0001c0001t0033g0050 a0001c0002t0001g0049	4	206	0.0194	-21	c.63- others(38): Show c.63-36549_63-36529delCTTTTCTTTTCTTTTCTTTTT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54316656	AAAATAAA others(14): Show AAAATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	280	0.0036	-21	c.277 others(40): Show c.277-35150_277-35130delATTTATTTATTTATTTTATTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316664	ATAAATAA others(14): Show ATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	280	0.0036	-21	c.277 others(40): Show c.277-35158_277-35138delATTTATTTATTTATTTATTTA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP4_chr19_18414398_18439562	18435791	ACTGGGTT others(14): Show ACTGGGTTGCTCTGCACCATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	302	0.0033	-21	c.15 others(32): Show c.1546_*1566delCTGGGTTGCTCTGCACCATGT		SSBP4	ENSG00000130511.16	transcript	ENST00000270061.12	protein_coding					1230		chr19	TogoVar
SSH2_chr17_29620938_29935228	29913348	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp2 HG02451.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0083 a0001c0001t0013g0084	2	232	0.0086	-21	c.63+ others(38): Show c.63+16569_63+16589delATATATATATATATATATATA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
SSNA1_chr9_137183676_137195366	137184389	GGGGAGCC others(14): Show GGGGAGCCCAGACGCAGACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	388	0.0026	-21	c.-43 others(32): Show c.-4337_-4317delGGGAGCCCAGACGCAGACACA		SSNA1	ENSG00000176101.12	transcript	ENST00000322310.10	protein_coding					4286		chr9	TogoVar
SSNA1_chr9_137183676_137195366	137184641	GCACAGGG others(14): Show GCACAGGGAGCCCAGACGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(27): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01975.hp1 HG02015.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0002 a0001c0001t0002g0007	30	388	0.0773	-21	c.-40 others(32): Show c.-4085_-4065delCACAGGGAGCCCAGACGCAGA		SSNA1	ENSG00000176101.12	transcript	ENST00000322310.10	protein_coding					4034		chr9	TogoVar
SSPN_chr12_26190573_26239777	26191687	CACACACA others(14): Show CACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0052 a0002c0003t0024 a0002c0003t0052	a0002c0003t0024g0010 a0002c0003t0024g0202 a0002c0003t0052g0010 a0002c0003t0024g0010 a0002c0003t0024g0202 a0002c0003t0052g0010	3	384	0.0078	-21	c.-39 others(32): Show c.-3985_-3965delACACACACACACACACACACA		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding					3885		chr12	TogoVar
SSPN_chr12_26190573_26239777	26201025	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG02083.hp2 others(17): Show HG00280.hp2 HG00423.hp2 HG02083.hp2 HG02109.hp1 HG02523.hp2 HG02735.hp2 HG03516.hp1 HG04184.hp1 HG04204.hp1 NA18941.hp2 NA18953.hp1 NA18964.hp2 NA18982.hp2 NA18985.hp1 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0041 a0001c0001t0042 others(2): Show a0001c0001t0001 a0001c0001t0041 a0001c0001t0042 a0001c0001t0066 a0001c0002t0014	a0001c0001t0001g0002 a0001c0001t0001g0204 a0001c0001t0001g0221 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0041g0206 a0001c0001t0042g0205 a0001c0001t0066g0208 a0001c0002t0014g0220	20	384	0.0521	-21	c.279 others(38): Show c.279+5088_279+5108delATATATATTATATATATATAT		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
SSR1_chr6_7276143_7318199	7292891	TGACAGCT others(14): Show TGACAGCTAGCTCACAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(78): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02698.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(10): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0005c0005t0003	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 others(62): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0057 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0011g0009 a0001c0001t0011g0068 a0001c0001t0011g0083 a0001c0001t0011g0088 a0001c0001t0011g0090 a0001c0001t0011g0100 a0001c0001t0014g0025 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0014g0203 a0001c0001t0014g0216 a0001c0001t0014g0255 a0001c0001t0015g0008 a0001c0001t0015g0060 a0001c0001t0015g0062 a0001c0001t0015g0087 a0001c0001t0016g0069 a0001c0001t0016g0071 a0001c0001t0016g0073 a0001c0001t0016g0078 a0001c0001t0016g0085 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0020g0086 a0001c0001t0020g0097 a0001c0001t0021g0106 a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0001t0021g0110 a0001c0001t0032g0018 a0001c0001t0043g0055 a0001c0001t0044g0061 a0001c0001t0045g0074 a0001c0001t0050g0109 a0005c0005t0003g0056	81	434	0.1866	-21	c.793 others(38): Show c.793+2480_793+2500delTCTTTCTGTGAGCTAGCTGTC		SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding	7/7						chr6	TogoVar
SSTR1_chr14_38202904_38218067	38213084	GAATTTTA others(14): Show GAATTTTATTGTTTCAATGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	-21	c.25 others(32): Show c.2520_*2540delAATTTTATTGTTTCAATGGAT		SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding					18		chr14	TogoVar
SSU72L1_chr11_4333245_4344345	4335340	CAGAGGGA others(14): Show CAGAGGGAGACCAGGGAGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA20905.hp2 NA19068.hp2 NA20905.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0000 a0006c0007t0009g0000	2	341	0.0059	-21	c.32 others(32): Show c.3299_*3319delCCCTCTCCCTGGTCTCCCTCT		SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding					2904		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335340	CAGAGGGA others(14): Show CAGAGGGAGACCAGGGAGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02615.hp2 others(2): Show HG02080.hp2 HG02155.hp2 HG02615.hp2 NA19007.hp2 NA20905.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0000 a0007c0007t0006g0000	5	340	0.0147	-21	c.48 others(32): Show c.4892_*4912delAGAGGGAGACCAGGGAGAGGG		SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding					4477		chr11	TogoVar
SSU72_chr1_1536673_1579863	1571244	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20905.hp2 HG03486.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0273 a0001c0002t0002g0319 a0001c0001t0004g0273 a0001c0002t0002g0319	2	386	0.0052	-21	c.80+ others(36): Show c.80+3213_80+3233delTTTTTTTTTTTTTTTTTTTTT		SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4						chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133576572	ACAAAAAA others(14): Show ACAAAAAACAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	332	0.0030	-21	c.-54 others(32): Show c.-5482_-5462delGTTTTTTTTTTTTGTTTTTTG		ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding					4686		chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	312	0.0032	-21	c.534 others(36): Show c.534-677_534-657delTTTTTTTTTTTTTTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6						chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70408890	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	312	0.0032	-21	c.-10 others(42): Show c.-1003-9378_-1003-9358delTTTTTTTTTTTTTTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6						chr16	TogoVar

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