Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A14_chr3_170454548_170591075	170470308	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0066 a0004c0008t0010g0066	1	308	0.0033	20	c.199 others(39): Show c.1994-2951_1994-2932dupCACACACACACACACACACA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	7/7			chr3	TogoVar
SLC7A14_chr3_170454548_170591075	170471090	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG02976.hp2 others(3): Show HG02572.hp2 HG02922.hp2 HG02976.hp2 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0001c0001t0023 a0001c0001t0044 others(1): Show a0001c0001t0007 a0001c0001t0023 a0001c0001t0044 a0002c0004t0011	a0001c0001t0007g0195 a0001c0001t0007g0299 a0001c0001t0023g0158 others(3): Show a0001c0001t0007g0195 a0001c0001t0007g0299 a0001c0001t0023g0158 a0001c0001t0023g0194 a0001c0001t0044g0011 a0002c0004t0011g0121	6	308	0.0195	20	c.199 others(39): Show c.1994-3733_1994-3714dupACACACACACACACACACAC	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	7/7			chr3	TogoVar
SLC7A14_chr3_170454548_170591075	170570450	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02630.hp1 others(5): Show HG00673.hp2 HG02071.hp2 HG02630.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 NA18962.hp1 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0005c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0019 a0001c0005t0017 a0001c0006t0001 a0005c0013t0001	a0001c0001t0002g0041 a0001c0001t0004g0124 a0001c0001t0015g0006 others(5): Show a0001c0001t0002g0041 a0001c0001t0004g0124 a0001c0001t0015g0006 a0001c0002t0019g0051 a0001c0002t0019g0053 a0001c0005t0017g0050 a0001c0006t0001g0029 a0005c0013t0001g0125	8	308	0.0260	20	c.-15 others(41): Show c.-153+15441_-153+15460dupATTTTATTTTATTTTATTTT	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	1/7			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02129.hp2 HG02602.hp1 others(2): Show HG00673.hp2 HG02129.hp2 HG02602.hp1 HG03209.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0036 a0001c0005t0006	a0001c0001t0001g0266 a0001c0001t0004g0243 a0001c0001t0009g0286 others(2): Show a0001c0001t0001g0266 a0001c0001t0004g0243 a0001c0001t0009g0286 a0001c0001t0036g0134 a0001c0005t0006g0107	5	330	0.0152	20	c.-11 others(39): Show c.-114-1517_-114-1498dupTTTTTTTTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558106	A A	AGGGGGGA others(13): Show AGGGGGGAGTGAATCTGAATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03540.hp2 HG01175.hp1 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0006 a0001c0013t0006 a0001c0008t0006 a0001c0013t0006	a0001c0008t0006g0172 a0001c0013t0006g0100 a0001c0008t0006g0172 a0001c0013t0006g0100	2	330	0.0061	20	c.-11 others(39): Show c.-114-4247_-114-4246insCATTCAGATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558378	G G	GTGAATGT others(13): Show GTGAATGTGAGTGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0226 a0001c0001t0012g0226	1	330	0.0030	20	c.-11 others(39): Show c.-114-4519_-114-4518insTTCCCCCTCACTCACATTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559070	G G	GGGGGAGT others(13): Show GGGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	1	330	0.0030	20	c.-11 others(39): Show c.-114-5211_-114-5210insGTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559299	A A	AGAATGTG others(13): Show AGAATGTGAGTGAGGGGGAGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18995.hp2 NA19081.hp1 NA18612.hp1 NA18995.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0009g0178 a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0009g0178	3	330	0.0091	20	c.-11 others(39): Show c.-114-5440_-114-5439insACTCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559500	T T	TGAATGTG others(13): Show TGAATGTGAGTGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	330	0.0030	20	c.-11 others(39): Show c.-114-5641_-114-5640insTCTCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29576292	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0193 a0001c0001t0012g0193	1	330	0.0030	20	c.-11 others(41): Show c.-115+19123_-115+19124insTTTTTTTTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A3_chrX_70920579_70936096	70922003	C C	CAAGAATC others(13): Show CAAGAATCACCCACCTTAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0065 a0002c0001t0001g0065	1	312	0.0032	20	c.38 others(31): Show c.3809_*3810insTTTTAAGGTGGGTGATTCTT	SLC7A3	ENSG00000165349.12	transcript	ENST00000374299.8	protein_coding		3575		chrX	TogoVar
SLC7A5_chr16_87825023_87874507	87845411	T T	TGCCCACC others(13): Show TGCCCACCCCACAGAGTCCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0375 a0001c0001t0065g0375	1	390	0.0026	20	c.665 others(37): Show c.665-4276_665-4257dupGTGGACTCTGTGGGGTGGGC	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	2/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0012 a0001c0015t0012	a0001c0015t0012g0166 a0001c0015t0012g0166	1	390	0.0026	20	c.538 others(37): Show c.538+4898_538+4899insATATATATATATATATATTT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp1 others(28): Show HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01168.hp1 HG01255.hp2 HG01257.hp1 HG01952.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02738.hp2 HG02970.hp2 HG03139.hp1 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp2 NA18957.hp1 NA18977.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA19074.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0005t0031	a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0173 others(28): Show a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0303 a0001c0001t0003g0372 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0379 a0001c0001t0004g0054 a0001c0001t0004g0177 a0001c0001t0006g0178 a0001c0001t0006g0226 a0001c0001t0007g0332 a0001c0001t0009g0088 a0001c0001t0013g0276 a0001c0001t0013g0283 a0001c0001t0058g0176 a0001c0001t0059g0174 a0001c0003t0001g0081 a0001c0005t0031g0382 a0001c0005t0031g0384	31	390	0.0795	20	c.538 others(37): Show c.538+4879_538+4898dupATATATATATATATATATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872865	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18986.hp1 NA19070.hp2 others(1): Show NA18980.hp2 NA18986.hp1 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0001 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0241 a0001c0001t0009g0170 a0001c0001t0009g0294 others(1): Show a0001c0001t0001g0241 a0001c0001t0009g0170 a0001c0001t0009g0294 a0001c0001t0013g0168	4	390	0.0103	20	c.-34 others(31): Show c.-3444_-3443insAAAGAAAGAAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3359		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	390	0.0026	20	c.-34 others(31): Show c.-3496_-3495insGAAGGAAGGAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG04204.hp2 NA19004.hp2 HG00408.hp1 HG04204.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0238 a0001c0001t0004g0192 a0001c0001t0015g0062 a0001c0001t0001g0238 a0001c0001t0004g0192 a0001c0001t0015g0062	3	390	0.0077	20	c.-34 others(31): Show c.-3496_-3495insGAAGGAAGAAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA19002.hp2 HG01192.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0057 a0001c0001t0028 a0001c0001t0057	a0001c0001t0028g0232 a0001c0001t0057g0229 a0001c0001t0028g0232 a0001c0001t0057g0229	2	390	0.0051	20	c.-34 others(31): Show c.-3496_-3495insGAAGAAAGAAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872924	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0313 a0001c0001t0030g0313	1	390	0.0026	20	c.-35 others(31): Show c.-3503_-3502insCAGAAAGAAAGAAAGAAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3418		chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68277316	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01346.hp2 others(12): Show HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01943.hp2 HG02004.hp2 HG02109.hp2 HG02451.hp1 HG02622.hp2 HG02809.hp1 HG03579.hp2 HG03942.hp2 NA18940.hp2 NA18959.hp2 NA18961.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0003g0185 a0001c0001t0004g0155 a0001c0001t0007g0154 a0001c0001t0007g0188 a0001c0001t0011g0105 a0001c0001t0011g0106	15	282	0.0532	20	c.523 others(37): Show c.523+2083_523+2102dupATTTATTTATTTATTTATTT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68291762	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03209.hp2 HG03942.hp1 HG00741.hp2 HG03209.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0039 a0001c0001t0003g0053 a0001c0001t0025g0235 a0001c0001t0003g0039 a0001c0001t0003g0053 a0001c0001t0025g0235	3	282	0.0106	20	c.102 others(37): Show c.1022+120_1022+139dupGTGTGTGTGTGTGTGTGTGT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC7A7_chr14_22768222_22820435	22772488	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	402	0.0025	20	c.11 others(31): Show c.1102_*1121dupTTTTTTTTTTTTTTTTTTTT	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding		733		chr14	TogoVar
SLC7A7_chr14_22768222_22820435	22792867	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp1 HG01261.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0177 a0001c0001t0001g0124 a0001c0001t0001g0177	2	402	0.0050	20	c.500 others(39): Show c.500-12836_500-12817dupCTCTCTCTCTCTCTCTCTCT	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A8_chr14_23120295_23188660	23147078	T T	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(156): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0003c0007 a0004c0013 a0006c0016 a0007c0009 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0058 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0083 a0001c0001t0084 a0001c0001t0094 a0001c0001t0105 a0001c0001t0121 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0019 a0001c0002t0024 a0001c0002t0025 a0001c0002t0029 a0001c0002t0049 a0001c0002t0056 a0001c0002t0061 a0001c0002t0062 a0001c0002t0079 a0001c0002t0088 a0001c0002t0089 a0001c0002t0091 a0001c0002t0095 a0001c0002t0103 a0001c0002t0109 a0001c0002t0110 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0034 a0001c0003t0055 a0001c0004t0014 a0001c0004t0016 a0001c0005t0002 a0001c0005t0024 a0001c0005t0025 a0001c0006t0060 a0001c0011t0099 a0003c0007t0026 a0004c0013t0031 a0006c0016t0086 a0007c0009t0056 a0008c0017t0037	a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0002g0288 others(153): Show a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0002g0288 a0001c0001t0003g0252 a0001c0001t0003g0327 a0001c0001t0003g0329 a0001c0001t0004g0240 a0001c0001t0004g0271 a0001c0001t0004g0276 a0001c0001t0004g0280 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0302 a0001c0001t0004g0315 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0005g0073 a0001c0001t0005g0080 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0097 a0001c0001t0005g0101 a0001c0001t0005g0107 a0001c0001t0005g0139 a0001c0001t0005g0148 a0001c0001t0006g0159 a0001c0001t0008g0356 a0001c0001t0013g0163 a0001c0001t0013g0170 a0001c0001t0014g0204 a0001c0001t0014g0221 a0001c0001t0016g0217 a0001c0001t0018g0318 a0001c0001t0019g0041 a0001c0001t0019g0042 a0001c0001t0020g0085 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0022g0066 a0001c0001t0022g0098 a0001c0001t0022g0115 a0001c0001t0023g0105 a0001c0001t0023g0111 a0001c0001t0025g0210 a0001c0001t0026g0321 a0001c0001t0027g0011 a0001c0001t0027g0343 a0001c0001t0028g0375 a0001c0001t0028g0378 a0001c0001t0028g0379 a0001c0001t0029g0028 a0001c0001t0029g0035 a0001c0001t0035g0018 a0001c0001t0035g0019 a0001c0001t0036g0029 a0001c0001t0036g0030 a0001c0001t0038g0034 a0001c0001t0040g0043 a0001c0001t0040g0050 a0001c0001t0046g0178 a0001c0001t0046g0184 a0001c0001t0048g0200 a0001c0001t0050g0208 a0001c0001t0050g0209 a0001c0001t0051g0004 a0001c0001t0052g0323 a0001c0001t0058g0017 a0001c0001t0064g0020 a0001c0001t0065g0022 a0001c0001t0066g0024 a0001c0001t0074g0044 a0001c0001t0075g0053 a0001c0001t0080g0131 a0001c0001t0083g0061 a0001c0001t0084g0068 a0001c0001t0094g0192 a0001c0001t0105g0278 a0001c0001t0121g0381 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0090 a0001c0002t0001g0102 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0002g0236 a0001c0002t0002g0267 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0005g0156 a0001c0002t0006g0188 a0001c0002t0007g0113 a0001c0002t0008g0010 a0001c0002t0008g0341 a0001c0002t0008g0342 a0001c0002t0008g0344 a0001c0002t0008g0349 a0001c0002t0011g0364 a0001c0002t0011g0370 a0001c0002t0011g0371 a0001c0002t0011g0373 a0001c0002t0012g0091 a0001c0002t0012g0145 a0001c0002t0015g0238 a0001c0002t0015g0273 a0001c0002t0015g0316 a0001c0002t0015g0330 a0001c0002t0019g0045 a0001c0002t0019g0047 a0001c0002t0019g0054 a0001c0002t0024g0193 a0001c0002t0024g0194 a0001c0002t0024g0196 a0001c0002t0025g0202 a0001c0002t0029g0033 a0001c0002t0049g0207 a0001c0002t0056g0353 a0001c0002t0061g0013 a0001c0002t0062g0014 a0001c0002t0079g0071 a0001c0002t0088g0084 a0001c0002t0089g0083 a0001c0002t0091g0185 a0001c0002t0095g0195 a0001c0002t0103g0211 a0001c0002t0109g0322 a0001c0002t0110g0303 a0001c0003t0007g0116 a0001c0003t0007g0144 a0001c0003t0007g0154 a0001c0003t0009g0077 a0001c0003t0009g0129 a0001c0003t0009g0142 a0001c0003t0010g0266 a0001c0003t0010g0277 a0001c0003t0010g0289 a0001c0003t0010g0335 a0001c0003t0017g0177 a0001c0003t0017g0186 a0001c0003t0017g0187 a0001c0003t0034g0331 a0001c0003t0055g0348 a0001c0003t0055g0350 a0001c0004t0014g0227 a0001c0004t0016g0229 a0001c0005t0002g0338 a0001c0005t0024g0198 a0001c0005t0025g0233 a0001c0006t0060g0016 a0001c0011t0099g0214 a0003c0007t0026g0340 a0004c0013t0031g0228 a0006c0016t0086g0157 a0007c0009t0056g0345 a0008c0017t0037g0040	159	392	0.4056	20	c.509 others(37): Show c.509-3894_509-3875dupGGATGGATGGATGGATGGAT	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	3/10			chr14	TogoVar
SLC7A8_chr14_23120295_23188660	23147078	T T	TATCCATC others(13): Show TATCCATCCATTCATCCATCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp1 HG02647.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0119 a0001c0003t0030 a0001c0003t0119	a0001c0003t0030g0052 a0001c0003t0119g0374 a0001c0003t0030g0052 a0001c0003t0119g0374	2	392	0.0051	20	c.509 others(37): Show c.509-3875_509-3874insGGATGGATGAATGGATGGAT	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	3/10			chr14	TogoVar
SLC7A8_chr14_23120295_23188660	23147090	C C	CATCCATC others(13): Show CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18983.hp2 HG02523.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0009 a0001c0001t0022 a0001c0003t0009	a0001c0001t0022g0151 a0001c0003t0009g0150 a0001c0001t0022g0151 a0001c0003t0009g0150	2	392	0.0051	20	c.509 others(37): Show c.509-3887_509-3886insAGATGGATGGATGGATGGAT	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	3/10			chr14	TogoVar
SLC7A9_chr19_32825511_32874767	32842597	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18942.hp1 NA18943.hp2 others(3): Show HG00323.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18975.hp1 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0079 a0002c0002t0003g0081 others(2): Show a0002c0002t0003g0009 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0091	6	404	0.0149	20	c.107 others(37): Show c.1075-300_1075-281dupCAAAACAAAACAAAACAAAA	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	10/12			chr19	TogoVar
SLC7A9_chr19_32825511_32874767	32858766	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0203 a0001c0009t0004g0203	1	404	0.0025	20	c.874 others(35): Show c.874-224_874-223insAATAAATAAATAAATAAATA	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	8/12			chr19	TogoVar
SLC7A9_chr19_32825511_32874767	32858768	C C	CTATATTT others(13): Show CTATATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	404	0.0025	20	c.874 others(35): Show c.874-226_874-225insTAAATAAATAAATAAATATA	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	8/12			chr19	TogoVar
SLC7A9_chr19_32825511_32874767	32858768	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG02735.hp2 others(9): Show HG00323.hp2 HG01243.hp2 HG02735.hp2 NA18747.hp2 NA18946.hp2 NA18955.hp1 NA18979.hp2 NA18986.hp1 NA19009.hp2 NA19056.hp1 NA19087.hp1 NA20805.hp1	a0001 a0010 a0015 a0001 a0010 a0015	a0001c0001 a0010c0020 a0015c0012 a0001c0001 a0010c0020 a0015c0012	a0001c0001t0001 a0010c0020t0001 a0015c0012t0001 a0001c0001t0001 a0010c0020t0001 a0015c0012t0001	a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0306 others(9): Show a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0358 a0010c0020t0001g0264 a0015c0012t0001g0325	12	404	0.0297	20	c.874 others(35): Show c.874-245_874-226dupTAAATAAATAAATAAATAAA	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	8/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0115 a0001c0001t0062g0115	1	236	0.0042	20	c.79 others(31): Show c.7954_*7973dupTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40287582	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp1 HG01934.hp2 others(9): Show HG01175.hp1 HG01255.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02683.hp1 HG03225.hp1 NA18959.hp2 NA19009.hp1 NA19043.hp2 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0041 a0001c0001t0045 a0001c0001t0113 a0001c0001t0185 a0001c0001t0187	a0001c0001t0001g0001 a0001c0001t0023g0124 a0001c0001t0024g0044 others(9): Show a0001c0001t0001g0001 a0001c0001t0023g0124 a0001c0001t0024g0044 a0001c0001t0025g0203 a0001c0001t0028g0026 a0001c0001t0031g0078 a0001c0001t0035g0225 a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0113g0047 a0001c0001t0185g0185 a0001c0001t0187g0083	12	236	0.0509	20	c.180 others(43): Show c.1809-109109_1809-109090dupCACACACACACACACACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40391190	T T	TTACACAC others(13): Show TTACACACACACGTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00642.hp1 others(130): Show HG00140.hp1 HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.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 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18971.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0004c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(114): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0131 a0001c0001t0133 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0146 a0001c0001t0150 a0001c0001t0152 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0163 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182 a0001c0001t0183 a0001c0001t0186 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0001t0190 a0001c0003t0165 a0001c0004t0179 a0002c0005t0007 a0003c0006t0073 a0004c0002t0180	a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0154 others(130): Show a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0002g0190 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0212 a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 a0001c0001t0005g0209 a0001c0001t0006g0149 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0008g0227 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0015g0074 a0001c0001t0015g0158 a0001c0001t0016g0017 a0001c0001t0017g0027 a0001c0001t0018g0155 a0001c0001t0018g0167 a0001c0001t0020g0068 a0001c0001t0020g0112 a0001c0001t0021g0031 a0001c0001t0021g0205 a0001c0001t0022g0176 a0001c0001t0022g0177 a0001c0001t0023g0023 a0001c0001t0023g0124 a0001c0001t0026g0071 a0001c0001t0026g0087 a0001c0001t0027g0034 a0001c0001t0028g0026 a0001c0001t0034g0159 a0001c0001t0036g0033 a0001c0001t0038g0098 a0001c0001t0047g0011 a0001c0001t0051g0107 a0001c0001t0052g0058 a0001c0001t0053g0085 a0001c0001t0054g0181 a0001c0001t0055g0009 a0001c0001t0056g0101 a0001c0001t0057g0170 a0001c0001t0058g0114 a0001c0001t0059g0215 a0001c0001t0060g0042 a0001c0001t0061g0055 a0001c0001t0062g0115 a0001c0001t0063g0053 a0001c0001t0064g0095 a0001c0001t0065g0065 a0001c0001t0067g0103 a0001c0001t0068g0235 a0001c0001t0069g0224 a0001c0001t0070g0008 a0001c0001t0071g0234 a0001c0001t0074g0151 a0001c0001t0075g0067 a0001c0001t0078g0066 a0001c0001t0080g0082 a0001c0001t0081g0144 a0001c0001t0082g0050 a0001c0001t0083g0219 a0001c0001t0084g0217 a0001c0001t0085g0196 a0001c0001t0096g0021 a0001c0001t0097g0070 a0001c0001t0098g0211 a0001c0001t0099g0180 a0001c0001t0100g0236 a0001c0001t0101g0199 a0001c0001t0102g0100 a0001c0001t0103g0123 a0001c0001t0104g0116 a0001c0001t0105g0045 a0001c0001t0106g0213 a0001c0001t0108g0024 a0001c0001t0109g0041 a0001c0001t0110g0198 a0001c0001t0113g0047 a0001c0001t0114g0099 a0001c0001t0115g0073 a0001c0001t0118g0046 a0001c0001t0120g0077 a0001c0001t0121g0092 a0001c0001t0123g0075 a0001c0001t0124g0202 a0001c0001t0125g0052 a0001c0001t0126g0051 a0001c0001t0127g0150 a0001c0001t0129g0094 a0001c0001t0131g0084 a0001c0001t0133g0206 a0001c0001t0137g0069 a0001c0001t0138g0230 a0001c0001t0139g0216 a0001c0001t0146g0004 a0001c0001t0150g0079 a0001c0001t0152g0204 a0001c0001t0159g0174 a0001c0001t0160g0010 a0001c0001t0161g0178 a0001c0001t0163g0193 a0001c0001t0166g0173 a0001c0001t0167g0175 a0001c0001t0168g0125 a0001c0001t0169g0168 a0001c0001t0170g0063 a0001c0001t0171g0214 a0001c0001t0172g0091 a0001c0001t0173g0086 a0001c0001t0175g0048 a0001c0001t0176g0166 a0001c0001t0177g0172 a0001c0001t0178g0014 a0001c0001t0181g0076 a0001c0001t0182g0040 a0001c0001t0183g0232 a0001c0001t0186g0039 a0001c0001t0187g0083 a0001c0001t0188g0057 a0001c0001t0189g0118 a0001c0001t0190g0113 a0001c0003t0165g0072 a0001c0004t0179g0012 a0002c0005t0007g0179 a0003c0006t0073g0156 a0004c0002t0180g0090	133	236	0.5636	20	c.180 others(41): Show c.1808+37282_1808+37283insTATATATACGTGTGTGTGTA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40391190	T T	TTACACAC others(13): Show TTACACACACATGTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp1 others(30): Show HG00140.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG02155.hp1 HG02258.hp1 HG02486.hp1 HG03017.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp1 NA18747.hp2 NA18939.hp1 NA18952.hp2 NA18953.hp2 NA18977.hp2 NA18995.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(28): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0072 a0001c0001t0087 a0001c0001t0095 a0001c0001t0107 a0001c0001t0116 a0001c0001t0117 a0001c0001t0122 a0001c0001t0130 a0001c0001t0145 a0001c0001t0147 a0001c0001t0151 a0001c0001t0153 a0001c0001t0156 a0001c0001t0164 a0001c0001t0185	a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0005g0020 others(30): Show a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0005g0020 a0001c0001t0008g0105 a0001c0001t0009g0165 a0001c0001t0010g0138 a0001c0001t0014g0005 a0001c0001t0014g0006 a0001c0001t0016g0152 a0001c0001t0019g0169 a0001c0001t0024g0111 a0001c0001t0029g0059 a0001c0001t0030g0064 a0001c0001t0035g0225 a0001c0001t0040g0139 a0001c0001t0043g0028 a0001c0001t0045g0013 a0001c0001t0046g0015 a0001c0001t0072g0043 a0001c0001t0087g0108 a0001c0001t0095g0221 a0001c0001t0107g0049 a0001c0001t0116g0093 a0001c0001t0117g0171 a0001c0001t0122g0104 a0001c0001t0130g0143 a0001c0001t0145g0220 a0001c0001t0147g0029 a0001c0001t0151g0110 a0001c0001t0153g0102 a0001c0001t0156g0163 a0001c0001t0164g0060 a0001c0001t0185g0185	33	236	0.1398	20	c.180 others(41): Show c.1808+37282_1808+37283insTATATATACATGTGTGTGTA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40417870	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01891.hp1 others(2): Show HG01109.hp1 HG01361.hp1 HG01891.hp1 HG02129.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0072 a0001c0001t0084 others(2): Show a0001c0001t0036 a0001c0001t0072 a0001c0001t0084 a0001c0001t0098 a0001c0001t0191	a0001c0001t0036g0033 a0001c0001t0072g0043 a0001c0001t0084g0217 others(2): Show a0001c0001t0036g0033 a0001c0001t0072g0043 a0001c0001t0084g0217 a0001c0001t0098g0211 a0001c0001t0191g0187	5	236	0.0212	20	c.180 others(41): Show c.1808+10583_1808+10602dupGTGTGTGTGTGTGTGTGTGT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG01069.hp1 others(16): Show HG00140.hp2 HG00621.hp1 HG01069.hp1 HG01358.hp1 HG01993.hp1 HG02145.hp1 HG02293.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp2 HG02897.hp1 HG03041.hp2 HG03579.hp2 HG03927.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0003 a0001c0002t0014 a0001c0004t0005 a0001c0004t0011	a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0064 others(16): Show a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0064 a0001c0001t0002g0104 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0306 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0002t0003g0159 a0001c0002t0003g0232 a0001c0002t0014g0222 a0001c0002t0014g0234 a0001c0004t0005g0290 a0001c0004t0005g0291 a0001c0004t0005g0302 a0001c0004t0011g0303	19	316	0.0601	20	c.188 others(39): Show c.1885+1565_1885+1566insAGGAAGGAAGGAAGGAAGGA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8A2_chr19_47423017_47476893	47439617	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0003 a0001c0018t0006 a0001c0001t0003 a0001c0018t0006	a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 others(1): Show a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0018t0006g0011	4	316	0.0127	20	c.188 others(39): Show c.1885+1532_1885+1551dupGAAGGAAGGAAGGAAGGAAG	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8B1_chr12_113293771_113340109	113303141	A A	ACACACAC others(13): Show ACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	284	0.0035	20	c.155 others(39): Show c.1557+1179_1557+1180insCGTGTGTGTGTGTGTGTGTG	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	15/15			chr12	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	234	0.0043	20	c.353 others(39): Show c.353-17681_353-17662dupATATATATATATATATATAT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp1 HG04184.hp1 others(1): Show HG01891.hp2 HG03453.hp1 HG04184.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0004g0285	4	344	0.0116	20	c.290 others(39): Show c.290-10793_290-10774dupATATATATATATATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00597.hp1 others(25): Show HG00280.hp2 HG00423.hp2 HG00597.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp2 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp1 HG02809.hp2 HG02895.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 NA18944.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18986.hp1 NA19057.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0021 a0001c0031 others(3): Show a0001c0001 a0001c0021 a0001c0031 a0002c0002 a0002c0011 a0003c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0021t0009 a0001c0031t0011 a0002c0002t0002 a0002c0002t0003 a0002c0011t0002 a0003c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0066 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0004g0086 a0001c0001t0004g0129 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0205 a0001c0001t0010g0062 a0001c0001t0022g0070 a0001c0021t0009g0008 a0001c0031t0011g0085 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0077 a0002c0002t0003g0163 a0002c0011t0002g0101 a0003c0014t0001g0160	28	218	0.1284	20	c.212 others(39): Show c.212-15115_212-15096dupAAAAAAAAAAAAAAAAAAAA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A4_chr2_102468226_102538972	102524556	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19062.hp1 NA18999.hp2 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0066 a0001c0004t0004g0084 a0001c0004t0004g0066 a0001c0004t0004g0084	2	382	0.0052	20	c.181 others(37): Show c.1819-458_1819-439dupGTGTGTGTGTGTGTGTGTGT	SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A7_chrX_46594251_46764118	46649070	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01099.hp1 others(16): Show HG00642.hp1 HG01081.hp2 HG01099.hp1 HG01346.hp1 HG01361.hp1 HG01993.hp1 HG02647.hp1 HG02717.hp1 HG03471.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 HG06807.hp2 NA18944.hp1 NA18948.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0032 a0001c0003t0011 a0001c0004t0005 a0001c0006t0005	a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0175 others(16): Show a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0169 a0001c0001t0005g0176 a0001c0001t0005g0198 a0001c0001t0006g0121 a0001c0001t0026g0011 a0001c0001t0032g0040 a0001c0003t0011g0130 a0001c0004t0005g0230 a0001c0006t0005g0173	19	250	0.0760	20	c.135 others(37): Show c.1351-293_1351-274dupGATAGATAGATAGATAGATA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	10/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46678412	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18986.hp1 HG00323.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0100 a0001c0002t0002g0233 a0001c0001t0004g0100 a0001c0002t0002g0233	2	250	0.0080	20	c.603 others(37): Show c.603+1246_603+1265dupTAAATAAATAAATAAATAAA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	3/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46711899	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	250	0.0040	20	c.326 others(39): Show c.326-29384_326-29365dupGTGTGTGTGTGTGTGTGTGT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46730668	A A	ATAAAATA others(13): Show ATAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0005 a0001c0001t0024g0005	1	250	0.0040	20	c.325 others(39): Show c.325+28036_325+28037insATATATATATATATATTTTA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46730670	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02135.hp1 HG02273.hp2 others(8): Show HG00099.hp1 HG02135.hp1 HG02273.hp2 HG03927.hp1 NA18747.hp1 NA18982.hp1 NA18986.hp1 NA18994.hp1 NA19007.hp1 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0097 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0004g0027 a0001c0001t0004g0086 a0001c0001t0021g0051 a0001c0001t0021g0057 a0001c0002t0002g0225 a0001c0002t0002g0233 a0001c0002t0002g0245 a0001c0003t0002g0061	11	250	0.0440	20	c.325 others(39): Show c.325+28015_325+28034dupTATATATATATATATATATA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46748364	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01993.hp1 others(3): Show HG00558.hp2 HG01109.hp1 HG01993.hp1 HG02015.hp1 HG02273.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0032 a0001c0001t0055 a0001c0003t0002	a0001c0001t0004g0042 a0001c0001t0005g0043 a0001c0001t0014g0041 others(3): Show a0001c0001t0004g0042 a0001c0001t0005g0043 a0001c0001t0014g0041 a0001c0001t0032g0040 a0001c0001t0055g0044 a0001c0003t0002g0108	6	250	0.0240	20	c.325 others(39): Show c.325+10321_325+10340dupCCTTCCTTCCTTCCTTCCTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49834139	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18973.hp2 NA18986.hp2 NA18940.hp1 NA18973.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0316 a0001c0002t0005g0318 a0001c0002t0005g0321 a0001c0002t0005g0316 a0001c0002t0005g0318 a0001c0002t0005g0321	3	360	0.0083	20	c.290 others(37): Show c.290-5374_290-5355dupCTCTCTCTCTCTCTCTCTCT	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	360	0.0028	20	c.149 others(37): Show c.1491+252_1491+271dupACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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