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
RSPO2_chr8_107894316_108088620	108003303	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp1 others(3): Show HG01109.hp1 HG02109.hp2 HG02280.hp1 HG02976.hp1 HG03209.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0002g0070 others(3): Show a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0163 a0002c0002t0001g0071	6	240	0.0250	-17	c.95- others(34): Show c.95-14076_95-14060delAAAAAAAAATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003305	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	240	0.0042	-17	c.95- others(34): Show c.95-14078_95-14062delAAAAAAAAAAATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108019505	CTCTCAGC others(10): Show CTCTCAGCCTTTCGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01109.hp1 others(17): Show HG00733.hp1 HG01074.hp2 HG01109.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03688.hp2 HG04199.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0002g0068 others(17): Show a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0163 a0001c0001t0007g0216 a0001c0001t0010g0006 a0001c0001t0010g0007 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0158	20	240	0.0833	-17	c.95- others(34): Show c.95-30278_95-30262delAGACCGAAAGGCTGAGA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSRC1_chr3_158105089_158550730	158118372	TAGAGGCA others(10): Show TAGAGGCATGTGCCACCA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0094 a0001c0001t0008g0094	1	276	0.0036	-17	c.-2- others(32): Show c.-2-3730_-2-3714delAGAGGCATGTGCCACCA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9			chr3	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 NA19070.hp1 HG02109.hp1 HG02723.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014	a0001c0001t0008g0094 a0001c0001t0009g0039 a0001c0001t0014g0274 a0001c0001t0008g0094 a0001c0001t0009g0039 a0001c0001t0014g0274	3	276	0.0109	-17	c.583 others(36): Show c.583+44248_583+44264delTTTTTTTTTTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549527	AATTATAT others(10): Show AATTATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG02698.hp2 HG00323.hp1 HG00642.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0006g0232 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0006g0232	3	276	0.0109	-17	c.52 others(28): Show c.5253_*5269delATTATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3798		chr3	TogoVar
RSRC2_chr12_122498454_122531936	122513228	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG03831.hp2 HG01243.hp2 HG02486.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0192 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0192	3	382	0.0079	-17	c.725 others(34): Show c.725+1860_725+1876delTATTTATTTATTTATTT	RSRC2	ENSG00000111011.18	transcript	ENST00000331738.12	protein_coding	6/9			chr12	TogoVar
RSU1_chr10_16585611_16822424	16697987	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00639.hp1 others(39): Show HG00140.hp1 HG00544.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02080.hp1 HG02155.hp2 HG02486.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18960.hp1 NA18974.hp1 NA19010.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19081.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0025 a0001c0001t0034 a0001c0001t0038 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0026 a0001c0002t0035 a0001c0003t0001 a0002c0004t0062	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0120 others(39): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0120 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0003g0172 a0001c0001t0004g0074 a0001c0001t0006g0167 a0001c0001t0009g0021 a0001c0001t0021g0041 a0001c0001t0025g0099 a0001c0001t0034g0014 a0001c0001t0038g0025 a0001c0001t0047g0042 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0177 a0001c0002t0003g0180 a0001c0002t0005g0082 a0001c0002t0005g0089 a0001c0002t0006g0130 a0001c0002t0007g0109 a0001c0002t0007g0153 a0001c0002t0014g0090 a0001c0002t0014g0107 a0001c0002t0015g0185 a0001c0002t0019g0004 a0001c0002t0022g0037 a0001c0002t0025g0106 a0001c0002t0026g0178 a0001c0002t0035g0017 a0001c0003t0001g0080 a0001c0003t0001g0134 a0002c0004t0062g0190	42	190	0.2211	-17	c.599 others(34): Show c.599-2849_599-2833delAAAAAAAAAAAAAAAAA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTCA_chr1_100261216_100297769	100283933	AAGAAAAA others(10): Show AAGAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	296	0.0034	-17	c.800 others(34): Show c.800-1293_800-1277delGAAAAAAAAAAAAAAGA	RTCA	ENSG00000137996.13	transcript	ENST00000370128.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RTL4_chrX_112078016_112462514	112419337	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0123 a0001c0003t0003g0123	1	134	0.0075	-17	c.-28 others(38): Show c.-284-11752_-284-11736delTTTTTTTTTTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59819411	ACCACCCC others(10): Show ACCACCCCCCCCCCACCC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01981.hp1 HG02723.hp2 others(4): Show HG01175.hp1 HG01981.hp1 HG02723.hp2 HG03669.hp2 NA18906.hp1 NA18944.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0166 a0002c0002t0001g0109	7	172	0.0407	-17	c.241 others(36): Show c.241+50962_241+50978delGGGTGGGGGGGGGGTGG	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45491560	CTCGCTCT others(10): Show CTCGCTCTGTTGCCCAAG	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	432	0.0023	-17	c.103 others(36): Show c.1033+1583_1033+1599delCTTGGGCAACAGAGCGA	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding	5/10			chr19	TogoVar
RTN4IP1_chr6_106565771_106634498	106612384	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02723.hp1 others(1): Show HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0133 a0001c0004t0003g0134 a0001c0004t0003g0135 others(1): Show a0001c0004t0003g0133 a0001c0004t0003g0134 a0001c0004t0003g0135 a0001c0004t0003g0136	4	396	0.0101	-17	c.620 others(34): Show c.620+6801_620+6817delTTTTTTTTTTTTTTTTT	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	4/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241866310	GGGGGGAT others(10): Show GGGGGGATGCTGAGCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01943.hp2 others(23): Show HG00673.hp2 HG00733.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03688.hp2 NA18942.hp2 NA18959.hp1 NA18965.hp1 NA18999.hp2 NA19005.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 a0003c0003t0002 a0003c0003t0003 a0003c0003t0042 a0004c0004t0001	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0004g0006 others(7): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0004g0006 a0001c0001t0011g0001 a0001c0001t0020g0006 a0003c0003t0002g0001 a0003c0003t0002g0020 a0003c0003t0003g0032 a0003c0003t0042g0001 a0004c0004t0001g0003	26	365	0.0712	-17	c.-34 others(28): Show c.-3446_-3430delGGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197703397	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0020 a0001c0010t0026 a0001c0010t0020 a0001c0010t0026	a0001c0010t0020g0176 a0001c0010t0026g0177 a0001c0010t0020g0176 a0001c0010t0026g0177	2	186	0.0108	-17	c.570 others(32): Show c.570+134_570+150delTTTTTTTTTTTTTTTTT	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	5/19			chr3	TogoVar
RUFY1_chr5_179545554_179615012	179577159	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0328 a0001c0002t0002g0328	1	376	0.0027	-17	c.890 others(30): Show c.890+37_890+53delTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY3_chr4_70716964_70813619	70783295	TTTTATTT others(10): Show TTTTATTTAGACTCCATG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG01517.hp1 others(6): Show HG00323.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02572.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0026 others(1): Show a0001c0001t0011 a0001c0001t0021 a0001c0001t0026 a0001c0001t0036	a0001c0001t0011g0227 a0001c0001t0011g0229 a0001c0001t0011g0230 others(6): Show a0001c0001t0011g0227 a0001c0001t0011g0229 a0001c0001t0011g0230 a0001c0001t0011g0231 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0021g0232 a0001c0001t0026g0081 a0001c0001t0036g0228	9	254	0.0354	-17	c.987 others(32): Show c.987+113_987+129delTTTATTTAGACTCCATG	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	9/17			chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87736870	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0156 a0001c0001t0051g0156	1	202	0.0050	-17	c.459 others(34): Show c.459-2920_459-2904delATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10			chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29003605	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	438	0.0023	-17	c.27 others(28): Show c.2795_*2811delTTTTTTTTTTTTTTTTT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding		778		chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29019771	TCCACCGG others(10): Show TCCACCGGCCTCGGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	438	0.0023	-17	c.-51 others(26): Show c.-511_-495delGAGGCCGAGGCCGGTGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding		423		chr21	TogoVar
RXRG_chr1_165395922_165450126	165415868	GCTGATCT others(10): Show GCTGATCTGAAAGTCAGA	G G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0141 a0001c0002t0005g0141	1	412	0.0024	-17	c.622 others(34): Show c.622+1156_622+1172delTCTGACTTTCAGATCAG	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	4/9			chr1	TogoVar
RYR1_chr19_38428691_38592564	38445186	GCAGAGGA others(10): Show GCAGAGGAGCCTGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG02922.hp2 HG03130.hp2	a0004 a0018 a0004 a0018	a0004c0084 a0018c0083 a0004c0084 a0018c0083	a0004c0084t0002 a0018c0083t0002 a0004c0084t0002 a0018c0083t0002	a0004c0084t0002g0210 a0018c0083t0002g0211 a0004c0084t0002g0210 a0018c0083t0002g0211	2	218	0.0092	-17	c.631 others(32): Show c.631+515_631+531delGAGCCTGGGTGACAGAG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	7/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38525809	GACCATGC others(10): Show GACCATGCCAAACCTGCT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0003 a0003c0051t0003	a0003c0051t0003g0036 a0003c0051t0003g0036	1	218	0.0046	-17	c.106 others(36): Show c.10626+308_10626+324delACCATGCCAAACCTGCT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	71/105			chr19	TogoVar
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02735.hp1 HG01256.hp1 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0012 a0001c0005 a0002c0012	a0001c0005t0001 a0002c0012t0001 a0001c0005t0001 a0002c0012t0001	a0001c0005t0001g0179 a0002c0012t0001g0168 a0001c0005t0001g0179 a0002c0012t0001g0168	2	218	0.0092	-17	c.122 others(38): Show c.12282+2628_12282+2644delTTTTTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38566032	GAGAGTGC others(10): Show GAGAGTGCAGGGCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0007 a0018 a0007 a0018	a0007c0039 a0018c0083 a0007c0039 a0018c0083	a0007c0039t0001 a0018c0083t0002 a0007c0039t0001 a0018c0083t0002	a0007c0039t0001g0031 a0018c0083t0002g0211 a0007c0039t0001g0031 a0018c0083t0002g0211	2	218	0.0092	-17	c.134 others(36): Show c.13437+292_13437+308delGGACAGAGTGCAGGGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	91/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38588030	GTCTGGCA others(10): Show GTCTGGCAGGGAAACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0115 a0004c0115	a0004c0115t0004 a0004c0115t0004	a0004c0115t0004g0216 a0004c0115t0004g0216	1	218	0.0046	-17	c.61 others(26): Show c.611_*627delTCTGGCAGGGAAACCTA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		467		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590387	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0135 a0001c0056t0001g0135	1	218	0.0046	-17	c.29 others(28): Show c.2968_*2984delAAAAAAAATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2824		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590393	AAATATAT others(10): Show AAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0015 a0015	a0015c0086 a0015c0086	a0015c0086t0001 a0015c0086t0001	a0015c0086t0001g0019 a0015c0086t0001g0019	1	218	0.0046	-17	c.29 others(28): Show c.2974_*2990delAATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2830		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590395	ATATATAT others(10): Show ATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0028 a0028	a0028c0087 a0028c0087	a0028c0087t0001 a0028c0087t0001	a0028c0087t0001g0023 a0028c0087t0001g0023	1	218	0.0046	-17	c.29 others(28): Show c.2976_*2992delTATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2832		chr19	TogoVar
RYR2_chr1_237037184_237838988	237350589	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0018 a0001c0003t0005g0018	1	100	0.0100	-17	c.274 others(34): Show c.274-5374_274-5358delAAAAAAAAAAAAATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237350599	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0021 a0002c0035t0021	a0002c0035t0021g0010 a0002c0035t0021g0010	1	100	0.0100	-17	c.274 others(34): Show c.274-5364_274-5348delAAATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237395533	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	100	0.0100	-17	c.773 others(34): Show c.773+7365_773+7381delTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237427782	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	100	0.0100	-17	c.100 others(36): Show c.1005+4548_1005+4564delAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	100	0.0100	-17	c.443 others(34): Show c.4437-583_4437-567delTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33325765	CCTTCCTT others(10): Show CCTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0013 a0005c0040t0013	a0005c0040t0013g0145 a0005c0040t0013g0145	1	154	0.0065	-17	c.51+ others(34): Show c.51+14670_51+14686delCTTCCTTCCTTCTTTCT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33558086	CTTTTTTA others(10): Show CTTTTTTAAATTTATTTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp1 HG02630.hp1 others(1): Show HG01106.hp1 HG02622.hp1 HG02630.hp1 NA21309.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0091 a0002c0093 a0007c0072 others(1): Show a0002c0091 a0002c0093 a0007c0072 a0013c0123	a0002c0091t0003 a0002c0093t0004 a0007c0072t0004 others(1): Show a0002c0091t0003 a0002c0093t0004 a0007c0072t0004 a0013c0123t0003	a0002c0091t0003g0154 a0002c0093t0004g0050 a0007c0072t0004g0045 others(1): Show a0002c0091t0003g0154 a0002c0093t0004g0050 a0007c0072t0004g0045 a0013c0123t0003g0047	4	154	0.0260	-17	c.973 others(34): Show c.973-4743_973-4727delAATTTATTTGTTTTTTA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	10/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A4_chr1_153538621_153550806	153539439	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	350	0.0029	-17	c.43 others(28): Show c.4303_*4319delATATATTTTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4181		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539439	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	378	0.0027	-17	c.138 others(32): Show c.138+598_138+614delATATATTTTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A6_chr1_153529599_153540991	153539439	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	-17	c.-35 others(28): Show c.-3529_-3513delATATATTTTTTTTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3449		chr1	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG02071.hp1 HG03130.hp1 others(5): Show HG01106.hp1 HG02071.hp1 HG03130.hp1 HG03130.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0044 a0001c0001t0010g0053 others(2): Show a0001c0001t0010g0032 a0001c0001t0010g0044 a0001c0001t0010g0053 a0001c0001t0010g0161 a0001c0001t0010g0166	8	400	0.0200	-17	c.65 others(26): Show c.659_*675delTTTTTTTTTTTTTTTTT	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	659		chr19	TogoVar
SAFB_chr19_5618083_5673478	5670986	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02896.hp2 others(1): Show HG01109.hp2 HG02486.hp1 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0002t0001g0238 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0002t0001g0238 a0001c0002t0001g0239	4	282	0.0142	-17	c.26 others(28): Show c.2696_*2712delTTTTTTTTTTTTTTTTT	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding		2509		chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6327728	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03098.hp1 others(2): Show HG02809.hp2 HG02970.hp1 HG03098.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 others(2): Show a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0018g0125 a0001c0001t0018g0126	5	420	0.0119	-17	c.34 others(28): Show c.3470_*3486delTTTTTTTTTTTTTTTTT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		1682		chr7	TogoVar
SAMD13_chr1_84296708_84355798	84311157	GAAATCCC others(10): Show GAAATCCCATCTCTACTA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	316	0.0032	-17	c.53+ others(32): Show c.53+7874_53+7890delTCCCATCTCTACTAAAA	SAMD13	ENSG00000203943.9	transcript	ENST00000394834.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50131534	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(106): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0138 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0177 a0001c0001t0004g0115 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0149 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0163 a0001c0001t0006g0166 a0001c0001t0006g0248 a0001c0001t0009g0031 a0001c0001t0009g0148 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0009g0160 a0001c0001t0009g0161 a0001c0001t0009g0162 a0001c0001t0009g0168 a0001c0001t0009g0175 a0001c0001t0014g0027 a0001c0001t0016g0259 a0001c0001t0016g0260 a0001c0001t0016g0271 a0001c0001t0016g0277 a0001c0001t0016g0278 a0001c0001t0017g0021 a0001c0001t0024g0039 a0001c0001t0034g0164 a0001c0001t0039g0170 a0001c0001t0041g0156 a0001c0001t0042g0250 a0001c0001t0044g0265 a0001c0001t0045g0257 a0001c0001t0046g0264 a0001c0001t0051g0293 a0003c0005t0001g0280	109	398	0.2739	-17	c.-20 others(28): Show c.-2047_-2031delTTTTTTTTTTTTTTTTT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding		1375		chr17	TogoVar
SAMD15_chr14_77372379_77397163	77372936	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0049 a0005c0007t0004g0049	1	314	0.0032	-17	c.-44 others(28): Show c.-4482_-4466delTATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4442		chr14	TogoVar
SAMD3_chr6_130139315_130227951	130154711	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0001 a0009c0005t0001	a0009c0005t0001g0231 a0009c0005t0001g0231	1	338	0.0030	-17	c.102 others(33): Show c.1023+97_1023+113delATATATATATTTTTTTT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54576001	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(104): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp2 NA18968.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19067.hp2 NA19070.hp1 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0002c0003 a0002c0009 a0003c0016 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0083 a0001c0002t0005 a0001c0004t0002 a0001c0004t0003 a0001c0004t0062 a0001c0008t0016 a0001c0011t0002 a0002c0003t0002 a0002c0009t0016 a0003c0016t0003 a0005c0012t0013	a0001c0001t0001g0043 a0001c0001t0002g0138 a0001c0001t0002g0140 others(104): Show a0001c0001t0001g0043 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0226 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0222 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0004g0051 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0195 a0001c0001t0006g0231 a0001c0001t0006g0257 a0001c0001t0009g0143 a0001c0001t0009g0201 a0001c0001t0009g0214 a0001c0001t0011g0161 a0001c0001t0011g0167 a0001c0001t0011g0170 a0001c0001t0011g0206 a0001c0001t0012g0151 a0001c0001t0012g0181 a0001c0001t0012g0227 a0001c0001t0012g0236 a0001c0001t0013g0190 a0001c0001t0013g0234 a0001c0001t0015g0205 a0001c0001t0015g0229 a0001c0001t0016g0179 a0001c0001t0023g0142 a0001c0001t0023g0202 a0001c0001t0024g0191 a0001c0001t0025g0147 a0001c0001t0025g0149 a0001c0001t0026g0137 a0001c0001t0026g0240 a0001c0001t0027g0238 a0001c0001t0027g0260 a0001c0001t0028g0156 a0001c0001t0028g0157 a0001c0001t0029g0216 a0001c0001t0059g0253 a0001c0001t0061g0145 a0001c0001t0063g0171 a0001c0001t0064g0174 a0001c0001t0065g0256 a0001c0001t0066g0208 a0001c0001t0067g0154 a0001c0001t0068g0177 a0001c0001t0070g0178 a0001c0001t0071g0199 a0001c0001t0072g0189 a0001c0001t0073g0144 a0001c0001t0075g0152 a0001c0001t0078g0243 a0001c0001t0079g0192 a0001c0001t0083g0194 a0001c0002t0005g0064 a0001c0004t0002g0204 a0001c0004t0003g0166 a0001c0004t0062g0139 a0001c0008t0016g0220 a0001c0011t0002g0197 a0002c0003t0002g0245 a0002c0009t0016g0188 a0003c0016t0003g0251 a0005c0012t0013g0155	107	262	0.4084	-17	c.196 others(34): Show c.196+7910_196+7926delTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54623483	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	262	0.0038	-17	c.196 others(36): Show c.196+55385_196+55401delAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4B_chr19_39337421_39390700	39369527	AGTTATGA others(10): Show AGTTATGAAAAGAAAATC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	232	0.0043	-17	c.197 others(31): Show c.197-114_197-98delAATCGTTATGAAAAGAA	SAMD4B	ENSG00000179134.16	transcript	ENST00000610417.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD5_chr6_147503690_147575021	147515176	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0338 a0001c0001t0012g0338	1	364	0.0028	-17	c.459 others(34): Show c.459+5804_459+5820delTTTTTTTTTTTTTTTTT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar

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