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
RTN4RL2_chr11_57455528_57482534	57470575	TAAGGATT others(21): Show TAAGGATTAAAATGTAAGGCATTTAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02145.hp1 others(16): Show HG01243.hp2 HG01884.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0046 others(9): Show a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0066 a0001c0002t0001g0112 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0006g0148	19	348	0.0546	-28	c.513 others(45): Show c.513+2515_513+2542delAGGATTAAAATGTAAGGCATTTAGCACA	RTN4RL2	ENSG00000186907.8	transcript	ENST00000335099.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL2_chr11_57455528_57482534	57481570	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18999.hp2 NA20905.hp2 NA18983.hp1 NA18999.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0081	3	348	0.0086	-28	c.46 others(39): Show c.4660_*4687delCCTCCCTCCCTCCCTCCCTCCCTTCCTT	RTN4RL2	ENSG00000186907.8	transcript	ENST00000335099.8	protein_coding		4037		chr11	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(21): Show CATATATATATATATAGATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(24): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG01074.hp2 HG01891.hp1 HG02055.hp2 HG02080.hp1 HG02258.hp1 HG02630.hp2 HG03130.hp2 NA18612.hp1 NA18944.hp2 NA18955.hp2 NA18957.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19043.hp1 NA19055.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0025 a0001c0001t0066 a0001c0001t0067 a0001c0001t0076 a0002c0002t0001 a0002c0002t0056	a0001c0001t0002g0285 a0001c0001t0004g0009 a0001c0001t0004g0015 others(21): Show a0001c0001t0002g0285 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0004g0214 a0001c0001t0004g0249 a0001c0001t0017g0195 a0001c0001t0017g0203 a0001c0001t0017g0205 a0001c0001t0025g0204 a0001c0001t0025g0207 a0001c0001t0066g0206 a0001c0001t0067g0192 a0001c0001t0076g0208 a0002c0002t0001g0135 a0002c0002t0056g0136	27	356	0.0758	-28	c.925 others(43): Show c.925+164_925+191delATATATATATATCTATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUNDC3B_chr7_87623398_87837296	87626349	ATATATGT others(21): Show ATATATGTGTCATATATATGTGTCATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0073 a0001c0001t0033g0073	1	202	0.0050	-28	c.-24 others(39): Show c.-2474_-2447delTATATGTGTCATATATATGTGTCATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2048		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626618	ATGTGTCA others(21): Show ATGTGTCATATATATGTGTCATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG03704.hp2 NA20805.hp2 HG01433.hp2 HG03704.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0191 a0001c0001t0008g0193 a0001c0001t0011g0200 a0001c0001t0008g0191 a0001c0001t0008g0193 a0001c0001t0011g0200	3	202	0.0149	-28	c.-22 others(39): Show c.-2205_-2178delTGTGTCATATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1779		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87703886	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0143 a0001c0001t0072g0143	1	202	0.0050	-28	c.372 others(45): Show c.372+3360_372+3387delGTTTTTTTTTTTTTTTTTTTTTTTTTTG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87742575	AATAGATA others(21): Show AATAGATAGATAGATAGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0038 a0001c0001t0052g0038	1	202	0.0050	-28	c.629 others(45): Show c.629+1016_629+1043delGATAGATAGATAGATAGATAGATAGATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87752791	GGTTTATC others(21): Show GGTTTATCAGTTTTGTTGATCCTTTCAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	202	0.0050	-28	c.629 others(47): Show c.629+11213_629+11240delGTTTATCAGTTTTGTTGATCCTTTCA AA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	6/10			chr7	TogoVar
RXRB_chr6_33188588_33205665	33203338	AATCAGAA others(21): Show AATCAGAAAGTCTGTGGAAAGGACCTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18992.hp1 NA18993.hp1 others(3): Show NA18984.hp1 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0003g0011 a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0003g0011	6	391	0.0154	-28	c.-28 others(39): Show c.-2890_-2863delCAGAGGTCCTTTCCACAGACTTTCTGAT	RXRB	ENSG00000204231.11	transcript	ENST00000374680.4	protein_coding		2674		chr6	TogoVar
RYR1_chr19_38428691_38592564	38468330	ATCCATCC others(21): Show ATCCATCCATCCATTCTTCCAGCCAACTG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0111 a0001c0036t0001g0111	1	218	0.0046	-28	c.338 others(45): Show c.3381+532_3381+559delTCTTCCAGCCAACTGTCCATCCATCCAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	25/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38539892	CCAATTTA others(21): Show CCAATTTAAATTAACACAATTTAATTTAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01169.hp1 others(24): Show HG01070.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02015.hp1 HG02074.hp1 HG02615.hp2 HG03017.hp2 HG03453.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18955.hp1 NA18970.hp2 NA19000.hp2 NA19004.hp2 NA19043.hp2 NA19067.hp1 NA19084.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0007 a0009 a0010 a0022 a0024 a0030	a0001c0019 a0001c0022 a0001c0029 others(17): Show a0001c0019 a0001c0022 a0001c0029 a0001c0031 a0001c0034 a0001c0035 a0001c0067 a0001c0094 a0001c0105 a0001c0116 a0004c0015 a0004c0072 a0005c0016 a0005c0107 a0007c0038 a0009c0103 a0010c0021 a0022c0060 a0024c0061 a0030c0048	a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 others(17): Show a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 a0001c0031t0001 a0001c0034t0001 a0001c0035t0001 a0001c0067t0001 a0001c0094t0001 a0001c0105t0001 a0001c0116t0001 a0004c0015t0001 a0004c0072t0001 a0005c0016t0001 a0005c0107t0001 a0007c0038t0002 a0009c0103t0001 a0010c0021t0001 a0022c0060t0001 a0024c0061t0001 a0030c0048t0001	a0001c0019t0002g0217 a0001c0019t0002g0218 a0001c0022t0001g0051 others(24): Show a0001c0019t0002g0217 a0001c0019t0002g0218 a0001c0022t0001g0051 a0001c0022t0001g0052 a0001c0029t0001g0074 a0001c0029t0001g0083 a0001c0031t0001g0159 a0001c0034t0001g0180 a0001c0035t0001g0113 a0001c0067t0001g0183 a0001c0094t0001g0066 a0001c0105t0001g0089 a0001c0116t0001g0121 a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 a0004c0072t0001g0125 a0005c0016t0001g0122 a0005c0016t0001g0123 a0005c0107t0001g0042 a0007c0038t0002g0215 a0009c0103t0001g0146 a0010c0021t0001g0177 a0010c0021t0001g0178 a0022c0060t0001g0112 a0024c0061t0001g0044 a0030c0048t0001g0118	27	218	0.1239	-28	c.116 others(49): Show c.11689+1951_11689+1978delTTTAATTTAACAATTTAAATTAAC ACAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590384	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG02922.hp1 others(3): Show HG00642.hp2 HG02622.hp1 HG02922.hp1 HG03486.hp1 NA19030.hp2 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0011 a0001c0068 a0001c0070 others(2): Show a0001c0011 a0001c0068 a0001c0070 a0001c0119 a0020c0081	a0001c0011t0001 a0001c0068t0002 a0001c0070t0001 others(2): Show a0001c0011t0001 a0001c0068t0002 a0001c0070t0001 a0001c0119t0001 a0020c0081t0001	a0001c0011t0001g0003 a0001c0011t0001g0005 a0001c0068t0002g0209 others(3): Show a0001c0011t0001g0003 a0001c0011t0001g0005 a0001c0068t0002g0209 a0001c0070t0001g0002 a0001c0119t0001g0189 a0020c0081t0001g0143	6	218	0.0275	-28	c.29 others(39): Show c.2965_*2992delAAAAAAAAAAATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2821		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590386	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0088 a0005c0088	a0005c0088t0001 a0005c0088t0001	a0005c0088t0001g0053 a0005c0088t0001g0053	1	218	0.0046	-28	c.29 others(39): Show c.2967_*2994delAAAAAAAAATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2823		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590388	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0158 a0001c0033t0001g0158	1	218	0.0046	-28	c.29 others(39): Show c.2969_*2996delAAAAAAATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2825		chr19	TogoVar
RYR2_chr1_237037184_237838988	237178416	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0002 a0003c0043t0002	a0003c0043t0002g0068 a0003c0043t0002g0068	1	100	0.0100	-28	c.49- others(45): Show c.49-92055_49-92028delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	100	0.0100	-28	c.576 others(45): Show c.576+2960_576+2987delTATATATATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237542058	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0021 a0002c0035t0021	a0002c0035t0021g0010 a0002c0035t0021g0010	1	100	0.0100	-28	c.290 others(47): Show c.2907-6349_2907-6322delATTTATTTATTTATTTATTTATTTAT TT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565157	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02055.hp1 others(12): Show HG00408.hp1 HG00408.hp2 HG02055.hp1 HG02486.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG04228.hp1 NA18747.hp1 NA18946.hp2 NA19066.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0036 a0002c0031 a0002c0035 a0004c0034	a0001c0001t0001 a0001c0002t0003 a0001c0004t0004 others(12): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0004 a0001c0005t0011 a0001c0007t0001 a0001c0007t0016 a0001c0007t0019 a0001c0007t0024 a0001c0008t0028 a0001c0011t0004 a0001c0026t0004 a0001c0036t0003 a0002c0031t0025 a0002c0035t0021 a0004c0034t0011	a0001c0001t0001g0099 a0001c0002t0003g0052 a0001c0004t0004g0009 others(12): Show a0001c0001t0001g0099 a0001c0002t0003g0052 a0001c0004t0004g0009 a0001c0005t0011g0061 a0001c0007t0001g0020 a0001c0007t0016g0042 a0001c0007t0019g0057 a0001c0007t0024g0048 a0001c0008t0028g0039 a0001c0011t0004g0064 a0001c0026t0004g0055 a0001c0036t0003g0038 a0002c0031t0025g0056 a0002c0035t0021g0010 a0004c0034t0011g0043	15	100	0.1500	-28	c.321 others(47): Show c.3215-1368_3215-1341delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A6_chr1_153529599_153540991	153532284	CTGGGGCC others(21): Show CTGGGGCCTGCCCCAGTTTACAGAGATGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-28	c.23 others(39): Show c.2384_*2411delCCATCTCTGTAAACTGGGGCAGGCCCCA	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		2314		chr1	TogoVar
S100Z_chr5_76845014_76926650	76906976	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18969.hp1 NA18970.hp2 others(4): Show HG00408.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18992.hp2 NA19076.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0123 a0002c0002t0002g0124 others(4): Show a0002c0002t0002g0061 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128	7	348	0.0201	-28	c.3- others(45): Show c.3-13720_*3-13693delTATATATATATATATATATATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906997	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03453.hp2 NA18939.hp1 others(4): Show HG00558.hp1 HG03453.hp2 NA18939.hp1 NA18950.hp1 NA18964.hp2 NA18966.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0154 a0002c0002t0001g0192 others(4): Show a0002c0002t0001g0016 a0002c0002t0001g0154 a0002c0002t0001g0192 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0304	7	348	0.0201	-28	c.3- others(45): Show c.3-13708_*3-13681delTATATATATATATATACATATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAA2_chr11_18240240_18253668	18251910	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp1 others(8): Show HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG03195.hp2 HG03471.hp1 HG03927.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0078 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0053	11	474	0.0232	-28	c.-33 others(39): Show c.-3340_-3313delTAAATAAATAAATAAATAAATAAATAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3243		chr11	TogoVar
SAGSIN1_chr7_6324411_6353967	6343397	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 HG00735.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0131 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0131	3	420	0.0071	-28	c.186 others(45): Show c.186+5148_186+5175delATATATATATATATATATATATATATAT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAMD11_chr1_918923_949574	934077	GCGTTACA others(21): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03834.hp2 others(1): Show HG02451.hp2 HG02717.hp2 HG03834.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0049	a0001c0001t0001 a0001c0002t0002 a0002c0003t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0004 a0002c0049t0004	a0001c0001t0001g0142 a0001c0002t0002g0358 a0002c0003t0004g0224 others(1): Show a0001c0001t0001g0142 a0001c0002t0002g0358 a0002c0003t0004g0224 a0002c0049t0004g0223	4	434	0.0092	-28	c.843 others(45): Show c.843-1667_843-1640delCCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934349	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03516.hp1 HG03239.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0178 a0001c0002t0002g0359 a0001c0001t0003g0178 a0001c0002t0002g0359	2	434	0.0046	-28	c.843 others(45): Show c.843-1400_843-1373delAGGGGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934573	AGGCTGCT others(21): Show AGGCTGCTCCGTTACAGGTGGGCGGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA21309.hp1 NA19010.hp2 NA21309.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0014c0027 a0002c0003 a0014c0027	a0002c0003t0004 a0014c0027t0004 a0002c0003t0004 a0014c0027t0004	a0002c0003t0004g0224 a0014c0027t0004g0232 a0002c0003t0004g0224 a0014c0027t0004g0232	2	434	0.0046	-28	c.843 others(45): Show c.843-1195_843-1168delTGCTCCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934665	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0358 a0001c0002t0002g0358	1	434	0.0023	-28	c.843 others(45): Show c.843-1079_843-1052delCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934736	GGGGGAGG others(21): Show GGGGGAGGCGGCTGCGTTACAGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	434	0.0023	-28	c.843 others(43): Show c.843-980_843-953delAGGGGAGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934805	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18975.hp1 HG03831.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0001 a0001c0001t0019 a0001c0004t0001	a0001c0001t0019g0190 a0001c0004t0001g0145 a0001c0001t0019g0190 a0001c0004t0001g0145	2	434	0.0046	-28	c.843 others(43): Show c.843-939_843-912delCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934909	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG02135.hp1 others(21): Show HG00673.hp2 HG01361.hp1 HG02135.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA19001.hp2 NA19070.hp1 NA19077.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0002t0025 a0001c0004t0001 a0002c0003t0004 a0003c0006t0002	a0001c0001t0001g0018 a0001c0001t0001g0068 a0001c0001t0001g0084 others(20): Show a0001c0001t0001g0018 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0003g0173 a0001c0002t0004g0327 a0001c0002t0025g0344 a0001c0004t0001g0060 a0001c0004t0001g0071 a0001c0004t0001g0096 a0002c0003t0004g0250 a0003c0006t0002g0261	24	434	0.0553	-28	c.843 others(43): Show c.843-837_843-810delGGGGGCGGCTGCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118440657	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	188	0.0053	-28	c.193 others(43): Show c.193-724_193-697delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118548376	AACACACA others(21): Show AACACACATACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	188	0.0053	-28	c.192 others(47): Show c.192+32311_192+32338delGTGTGTGTGTGTGTGTGTGTATGTGT GT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD15_chr14_77372379_77397163	77372930	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	314	0.0032	-28	c.-44 others(39): Show c.-4488_-4461delTATATATATATATATATATATATTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4448		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0145 a0001c0001t0061g0145	1	262	0.0038	-28	c.197 others(47): Show c.197-23573_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAP130_chr2_127936222_128033059	128014364	CATCTCAG others(21): Show CATCTCAGCCTCCTGAGTGCCATCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19030.hp1 HG01175.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0313 a0001c0007t0005g0314 a0001c0007t0005g0313 a0001c0007t0005g0314	2	350	0.0057	-28	c.619 others(43): Show c.619+411_619+438delAGGAGGATGGCACTCAGGAGGCTGAGAT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	5/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128014392	TATCTCAG others(21): Show TATCTCAGCCTCCTGAGTGCCATCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18952.hp2 NA18972.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp1 NA19010.hp2 NA19055.hp2 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0012 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0012 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(81): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0004g0006 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0010g0083 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0012g0044 a0001c0006t0001g0070 a0001c0006t0001g0076 a0001c0010t0001g0327 a0001c0012t0001g0024 a0001c0015t0001g0060	84	350	0.2400	-28	c.619 others(43): Show c.619+383_619+410delGGGAGGATGGCACTCAGGAGGCTGAGAT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	5/20			chr2	TogoVar
SARDH_chr9_133658560_133743352	133689141	GCTCACCT others(21): Show GCTCACCTCGGCGACCTTCAGGCTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0139 a0002c0004t0001g0139	1	262	0.0038	-28	c.206 others(47): Show c.2069+1211_2069+1238delTCTCCAGCCTGAAGGTCGCCGAGGTG AG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	16/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734428	CTCATTCA others(21): Show CTCATTCATTCACTCATTCATTCATTCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG03486.hp1 others(2): Show HG02109.hp1 HG02109.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0003 a0003c0003t0002 others(1): Show a0001c0001t0003 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003	a0001c0001t0003g0047 a0002c0002t0003g0046 a0003c0003t0002g0240 others(2): Show a0001c0001t0003g0047 a0002c0002t0003g0046 a0003c0003t0002g0240 a0003c0003t0003g0045 a0003c0003t0003g0048	5	262	0.0191	-28	c.-30 others(43): Show c.-30-253_-30-226delATGAATGAATGAATGAGTGAATGAATGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109221986	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	402	0.0025	-28	c.137 others(45): Show c.137-1990_137-1963delATATATATATATATATATATATATTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG03831.hp1 others(3): Show HG01261.hp2 HG01891.hp1 HG03831.hp1 NA18906.hp2 NA18981.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0001t0006 a0002c0004t0011 others(1): Show a0001c0001t0002 a0001c0001t0006 a0002c0004t0011 a0002c0005t0023	a0001c0001t0002g0108 a0001c0001t0002g0202 a0001c0001t0006g0181 others(3): Show a0001c0001t0002g0108 a0001c0001t0002g0202 a0001c0001t0006g0181 a0002c0004t0011g0095 a0002c0004t0011g0284 a0002c0005t0023g0219	6	322	0.0186	-28	c.157 others(45): Show c.157-2469_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421134	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02135.hp2 others(7): Show HG01109.hp2 HG01891.hp2 HG02135.hp2 NA18943.hp1 NA18952.hp1 NA18980.hp2 NA18982.hp1 NA19009.hp2 NA19012.hp2 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0011	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0003t0007 a0002c0002t0001 a0002c0002t0004 a0002c0004t0003 a0002c0004t0004 a0003c0011t0001	a0001c0001t0002g0296 a0001c0001t0004g0295 a0001c0003t0002g0185 others(7): Show a0001c0001t0002g0296 a0001c0001t0004g0295 a0001c0003t0002g0185 a0001c0003t0007g0270 a0002c0002t0001g0027 a0002c0002t0004g0200 a0002c0004t0003g0089 a0002c0004t0003g0100 a0002c0004t0004g0112 a0003c0011t0001g0078	10	322	0.0311	-28	c.286 others(47): Show c.286-19046_286-19019delGAAGGAAGGAAGAAAGAAAGAAAGAA AG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421138	GAAGGAAG others(21): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	322	0.0031	-28	c.286 others(47): Show c.286-19042_286-19015delGAAGGAAGAAAGAAAGAAAGAAAGAA AG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG01069.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0011 a0002c0004t0008 a0002c0004t0011	a0002c0004t0008g0093 a0002c0004t0011g0095 a0002c0004t0008g0093 a0002c0004t0011g0095	2	322	0.0062	-28	c.286 others(47): Show c.286-18995_286-18968delGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01258.hp2 HG02717.hp1 others(6): Show HG01175.hp1 HG01258.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0027	a0001c0001t0005g0098 a0001c0001t0005g0240 a0001c0001t0005g0269 others(6): Show a0001c0001t0005g0098 a0001c0001t0005g0240 a0001c0001t0005g0269 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0007g0124 a0001c0001t0013g0131 a0001c0001t0013g0160 a0001c0001t0027g0235	9	322	0.0280	-28	c.628 others(43): Show c.628-647_628-620delATATATATATATATATATATATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB2_chr2_199264505_199462939	199386704	GCGCGCGC others(21): Show GCGCGCGCGCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	254	0.0039	-28	c.347 others(45): Show c.347-4912_347-4885delTGTGTGTGTGTGTGTGCGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85088141	TATATGTA others(21): Show TATATGTATAAATACATACATATTTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0046 a0001c0001t0004g0047 a0001c0001t0002g0046 a0001c0001t0004g0047	2	232	0.0086	-28	c.42 others(39): Show c.4222_*4249delGTATAAATATGTATGTATTTATACATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4142		chrX	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00735.hp1 others(57): Show HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp1 HG01433.hp1 HG01884.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02738.hp1 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18954.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19065.hp1 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0009 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0009c0010 a0010c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0009c0010t0001 a0010c0009t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(57): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0228 a0002c0002t0001g0109 a0002c0002t0001g0140 a0002c0002t0001g0215 a0002c0002t0001g0216 a0003c0003t0001g0091 a0003c0003t0001g0156 a0006c0006t0001g0226 a0009c0010t0001g0151 a0010c0009t0001g0188	60	232	0.2586	-28	c.-31 others(49): Show c.-312-47561_-312-47534delTATATATATATATATATATATATA TATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85156842	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0157 a0003c0003t0001g0157	1	232	0.0043	-28	c.-31 others(49): Show c.-312-47590_-312-47563delTTATATATATATATATATATATAT ATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF1_chr22_50440000_50480035	50474603	CCGGCCCT others(21): Show CCGGCCCTCAGCGCCCAGCCCCCGGTCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0167 a0001c0008t0167	a0001c0008t0167g0387 a0001c0008t0167g0387	1	402	0.0025	-28	c.55+ others(41): Show c.55+155_55+182delAGGACCGGGGGCTGGGCGCTGAGGGCCG	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	1/40			chr22	TogoVar
SBF2_chr11_9773668_10299219	10249692	TTTGGAAT others(21): Show TTTGGAATGCTATGGGGGAGTCCATAGCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 HG01192.hp1 others(11): Show HG00609.hp2 HG01071.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG02148.hp2 HG02723.hp2 HG02809.hp1 HG03704.hp1 NA18986.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0018 a0002c0002t0001 a0002c0002t0004 a0006c0009t0001	a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 others(11): Show a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0003g0024 a0001c0001t0003g0076 a0001c0001t0015g0108 a0001c0001t0018g0222 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0004g0010 a0002c0002t0004g0014 a0006c0009t0001g0197	14	224	0.0625	-28	c.55+ others(45): Show c.55+44295_55+44322delTGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar

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