Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

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
RPTOR_chr17_80539838_80971368	80744497	TAGCACTG others(65): Show TAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0085 a0001c0029t0085	a0001c0029t0085g0012 a0001c0029t0085g0012	1	196	0.0051	-72	c.655 others(89): Show c.655-9507_655-9436delTGTCCTGGTTACGAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744595	TCCTGGTT others(65): Show TCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTCTCCTGGTTACGAGCACAGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0124 a0001c0028t0006g0124	1	196	0.0051	-72	c.655 others(89): Show c.655-9409_655-9338delTTACTAGCACAGCCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744601	TTACTAGC others(65): Show TTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTC CTGGTTACGAGCACAGCCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0086 a0001c0077t0086	a0001c0077t0086g0195 a0001c0077t0086g0195	1	196	0.0051	-72	c.655 others(89): Show c.655-9391_655-9320delTTACTAGCAGAGCCCTGGCTACTAGCAC TCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744631	CCCTGGCT others(65): Show CCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0058 a0001c0010t0009g0058	1	196	0.0051	-72	c.655 others(89): Show c.655-9362_655-9291delCTCCTGGTTACGAGCACAGCCCTGGCTA CTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80815864	GTCACGTG others(65): Show GTCACGTGCAGAGCATCCTCCCGACTGGCGAGGTGGCTTCCACGTGCCCC GTCAATCAGGGCTGGACAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01255.hp2 others(19): Show HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01517.hp1 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA18963.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19070.hp2 NA19088.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(13): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0016 a0001c0021 a0001c0022 a0001c0029 a0001c0058 a0001c0059 a0001c0072 a0001c0089 a0005c0092	a0001c0002t0017 a0001c0003t0004 a0001c0003t0038 others(18): Show a0001c0002t0017 a0001c0003t0004 a0001c0003t0038 a0001c0004t0023 a0001c0005t0074 a0001c0005t0075 a0001c0006t0082 a0001c0006t0087 a0001c0007t0069 a0001c0007t0090 a0001c0012t0018 a0001c0016t0031 a0001c0021t0018 a0001c0021t0079 a0001c0022t0001 a0001c0029t0085 a0001c0058t0004 a0001c0059t0080 a0001c0072t0006 a0001c0089t0006 a0005c0092t0012	a0001c0002t0017g0118 a0001c0003t0004g0119 a0001c0003t0038g0087 others(19): Show a0001c0002t0017g0118 a0001c0003t0004g0119 a0001c0003t0038g0087 a0001c0004t0023g0074 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0012t0018g0194 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0022t0001g0170 a0001c0029t0085g0012 a0001c0058t0004g0156 a0001c0059t0080g0006 a0001c0072t0006g0108 a0001c0089t0006g0159 a0005c0092t0012g0163	22	196	0.1122	-72	c.891 others(89): Show c.891-6293_891-6222delTGCCCCGTCAATCAGGGCTGGACAGTCC ATCACGTGCAGAGCATCCTCCCGACTGGCGAGGTGGCTTCCACG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476078	CCAGCGCG others(65): Show CCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCC AGCGCGCCTGCCCCCTTACCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	382	0.0026	-72	c.-28 others(83): Show c.-2806_-2735delCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2781		chr17	TogoVar
RTL4_chrX_112078016_112462514	112236398	AATATAGA others(65): Show AATATAGATATAGATCTATATCTATATATAGATATAGATCTATATCTATA TATAGATATAGATCTATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03209.hp1 HG02280.hp1 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0132 a0001c0002t0004g0015 a0001c0002t0004g0031 a0001c0002t0002g0132 a0001c0002t0004g0015 a0001c0002t0004g0031	3	134	0.0224	-72	c.-44 others(93): Show c.-444-69924_-444-69853delCTATATCTATATATAGATATAGAT CTATATCTATATATAGATATAGATCTATATCTATATATAGATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749312	ATATATAT others(65): Show ATATATATCTATATATCTATATATATCTATATATATCTATATATATCTAT ATATATATCTATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02896.hp1 HG03130.hp2 HG01515.hp2 HG02896.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0003t0001g0106 a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0003t0001g0106	3	172	0.0174	-72	c.242 others(89): Show c.242-2903_242-2832delGATATAGATATATAGATATATATATAGA TATATATAGATATATATAGATATATATAGATATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUBCN_chr3_197663867_197741904	197727990	TACATGCC others(65): Show TACATGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAAGCAGGAGGACTGCC TGACCTATGCTGGGCACAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02735.hp1 HG02602.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0134 a0001c0001t0001g0135	2	186	0.0108	-72	c.65+ others(87): Show c.65+8593_65+8664delGCCACTGTGCCCAGCATAGGTCAGGCAGTC CTCCTGCTTCAGCCTCCTGAGGAGCTGGGACTACAGGCATGT	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUNX1_chr21_34782801_35054302	34926484	AAGACAGC others(65): Show AAGACAGCACATATTTATTATTGACTAAATCTGTCAGCATTTTGATCTAC AACAAACACAAATTGTGTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0167 a0001c0002t0007g0167	1	170	0.0059	-72	c.59- others(89): Show c.59-33593_59-33522delGAAAAACACAATTTGTGTTTGTTGTAGA TCAAAATGCTGACAGATTTAGTCAATAATAAATATGTGCTGTCT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SACS_chr13_23323830_23438702	23420347	GACTAAAG others(65): Show GACTAAAGTCTACCTAGAATCCAGTGTCTACCTTGGGCCTAATGTCCACC GGTGGCCCAATGTAAATCTGGGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0374 a0005c0010t0005g0374	1	378	0.0027	-72	c.-50 others(91): Show c.-501-8679_-501-8608delGCCCAGATTTACATTGGGCCACCGGT GGACATTAGGCCCAAGGTAGACACTGGATTCTAGGTAGACTTTAGT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAMD3_chr6_130139315_130227951	130223133	TTTAAGCT others(65): Show TTTAAGCTCCTAGAAGAAATAACACTAACTAGAAAAAAAATTTCCTATAT CAATCTTAAGGCAGATATAATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	338	0.0030	-72	c.-57 others(81): Show c.-579_-508delTTATTATATCTGCCTTAAGATTGATATAGGAAATTT TTTTTCTAGTTAGTGTTATTTCTTCTAGGAGCTTAA	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding		183		chr6	TogoVar
SBNO1_chr12_123284109_123369847	123297329	CAAAAAAA others(65): Show CAAAAAAAAAAAAAAAAAAAAAAATTCATTAATTCAAATGAAAACCTACA ACATCCCAAAATACTGGTGTCCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00673.hp1 others(33): Show HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01243.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02735.hp2 HG03516.hp1 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 others(8): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0086 a0001c0002t0088 a0001c0002t0089 a0001c0002t0092 a0001c0002t0095 a0001c0011t0003	a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 others(33): Show a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0257 a0001c0002t0003g0259 a0001c0002t0009g0241 a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0253 a0001c0002t0021g0244 a0001c0002t0021g0250 a0001c0002t0021g0254 a0001c0002t0022g0230 a0001c0002t0022g0255 a0001c0002t0022g0256 a0001c0002t0034g0217 a0001c0002t0034g0218 a0001c0002t0086g0220 a0001c0002t0088g0239 a0001c0002t0089g0247 a0001c0002t0092g0226 a0001c0002t0095g0260 a0001c0011t0003g0234 a0001c0011t0003g0235	36	260	0.1385	-72	c.403 others(89): Show c.4039+577_4039+648delTGGACACCAGTATTTTGGGATGTTGTAG GTTTTCATTTGAATTAATGAATTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SCN9A_chr2_166190185_166380944	166191662	TATATATA others(65): Show TATATATATATATATATATACACACACATATATATATATGTATATATATA TATATACACACATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0261 a0001c0003t0012g0261	1	296	0.0034	-72	c.69 others(83): Show c.6938_*7009delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGTATATATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3522		chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(65): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0091 a0001c0008t0003g0091	1	306	0.0033	-72	c.-8- others(89): Show c.-8-15481_-8-15410delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288227	CTCTGCTC others(65): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTG	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	290	0.0035	-72	c.166 others(89): Show c.1662+209_1662+280delTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288981	CCGTGTCT others(65): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0014 a0019c0026t0001g0014	1	290	0.0035	-72	c.166 others(90): Show c.1662+946_1662+1017delGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289245	CCGTGTCT others(65): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC CCCGTCCCGTGTCTCTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19082.hp1 NA18612.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0228 a0002c0002t0001g0017 a0001c0001t0002g0228 a0002c0002t0001g0017	2	290	0.0069	-72	c.166 others(90): Show c.1663-1024_1663-953delGTGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289453	CCGTGTCT others(65): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	290	0.0035	-72	c.166 others(89): Show c.1663-816_1663-745delGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289498	TCTGCTCC others(65): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 NA19072.hp2 HG02258.hp1 HG02622.hp2 NA19072.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0008 a0005c0011 a0002c0003 a0004c0008 a0005c0011	a0002c0003t0005 a0004c0008t0001 a0005c0011t0001 a0002c0003t0005 a0004c0008t0001 a0005c0011t0001	a0002c0003t0005g0002 a0004c0008t0001g0239 a0005c0011t0001g0157 a0002c0003t0005g0002 a0004c0008t0001g0239 a0005c0011t0001g0157	3	290	0.0103	-72	c.166 others(89): Show c.1663-760_1663-689delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289552	CCTGCTCC others(65): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20805.hp1 HG02738.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0185 a0001c0001t0001g0188	2	290	0.0069	-72	c.166 others(89): Show c.1663-701_1663-630delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83390182	CATATATG others(65): Show CATATATGCGCGTATACGTGTGCACATATATGCGCGTATATATGCGCGTA TATATGCGCGTATATATGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01891.hp2 others(13): Show HG00639.hp1 HG01884.hp2 HG01891.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0004 others(2): Show a0001c0001 a0001c0005 a0002c0004 a0002c0012 a0003c0009	a0001c0001t0029 a0001c0001t0100 a0001c0005t0006 others(9): Show a0001c0001t0029 a0001c0001t0100 a0001c0005t0006 a0001c0005t0013 a0001c0005t0015 a0001c0005t0021 a0001c0005t0028 a0001c0005t0039 a0001c0005t0086 a0002c0004t0018 a0002c0012t0068 a0003c0009t0092	a0001c0001t0029g0113 a0001c0001t0100g0209 a0001c0005t0006g0042 others(13): Show a0001c0001t0029g0113 a0001c0001t0100g0209 a0001c0005t0006g0042 a0001c0005t0013g0052 a0001c0005t0013g0055 a0001c0005t0015g0201 a0001c0005t0021g0101 a0001c0005t0021g0157 a0001c0005t0028g0069 a0001c0005t0039g0002 a0001c0005t0086g0154 a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171 a0002c0012t0068g0068 a0003c0009t0092g0175	16	226	0.0708	-72	c.166 others(91): Show c.1667+2301_1667+2372delACGCGCATATATACGCGCATATATAC GCGCATATATACGCGCATATATGTGCACACGTATACGCGCATATAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390198	CGTGTGCA others(65): Show CGTGTGCACATATATGCGCGTATATATGCGCGTATATATGCGCGTATATA TGCGCGTATATATGCGCGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0061 a0001c0010t0060g0061	1	226	0.0044	-72	c.166 others(91): Show c.1667+2285_1667+2356delATATACGCGCATATATACGCGCATAT ATACGCGCATATATACGCGCATATATACGCGCATATATGTGCACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3G_chr3_52428035_52450103	52444714	CGCACACA others(65): Show CGCACACAAACACGGCACACGCAAACTCGGCACACGCACACAAACTCGGC ACACGCACACAAACACTGCACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0002c0005t0011 a0003c0007t0005	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0003g0003 a0001c0001t0003g0038 a0001c0001t0005g0008 a0001c0001t0006g0012 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0065 a0001c0001t0008g0014 a0001c0001t0009g0017 a0001c0001t0010g0024 a0001c0001t0012g0026 a0001c0001t0015g0044 a0001c0001t0016g0045 a0001c0001t0017g0046 a0001c0001t0018g0064 a0001c0001t0019g0047 a0001c0002t0001g0005 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0004t0002g0015 a0001c0006t0001g0035 a0001c0008t0002g0043 a0001c0009t0002g0048 a0001c0010t0002g0051 a0001c0011t0002g0054 a0002c0005t0011g0025 a0003c0007t0005g0037	297	310	0.9581	-72	c.115 others(87): Show c.115+127_115+198delATGTGCAGTGTTTGTGTGCGTGTGCCGAGT TTGTGTGCGTGTGCCGAGTTTGCGTGTGCCGTGTTTGTGTGC	SEMA3G	ENSG00000010319.7	transcript	ENST00000231721.7	protein_coding	1/15			chr3	TogoVar
SENP1_chr12_48037897_48111079	48057010	CATATTAC others(65): Show CATATTACATATATAAATATATTATTTAATATATTATATATTACATATAT AAATATATTATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	394	0.0025	-72	c.140 others(91): Show c.1407+6628_1407+6699delATAATATATTAAATAATATATTTATA TATGTAATATATAATATATTAAATAATATATTTATATATGTAATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SH2D1A_chrX_124341563_124378160	124350329	AATATATA others(65): Show AATATATAATATATAAATATATATTATATATAATATTATATAATATATAA TATATAAATATATATTATATACT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00733.hp1 others(34): Show HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01081.hp1 HG01175.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp1 HG06807.hp2 NA18947.hp2 NA19043.hp1 NA19056.hp1 NA19068.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 others(31): Show a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0248 a0001c0001t0001g0276 a0001c0001t0002g0096 a0001c0001t0002g0245 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0150 a0001c0001t0004g0001 a0001c0001t0004g0016 a0001c0001t0014g0001 a0002c0002t0001g0094	37	318	0.1164	-72	c.137 others(89): Show c.137+3580_137+3651delTAATATTATATAATATATAATATATAAA TATATATTATATACTATATATAATATATAAATATATATTATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3GL2_chr9_17574066_17802124	17738513	TATGTGTG others(65): Show TATGTGTGTGTATATACATACATATATACATAAGTGTGTGTGTATATACA TACATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	260	0.0039	-72	c.46- others(87): Show c.46-8551_46-8480delTGTGTGTGTATATACATACATATATACATA AGTGTGTGTGTATATACATACATATATATATAGAGAGAGAGA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	GAAGAAAG others(65): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18948.hp1 NA18962.hp1 others(8): Show HG02129.hp2 NA18948.hp1 NA18962.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0094 a0004c0004t0001g0110 a0004c0004t0001g0120 others(8): Show a0004c0004t0001g0094 a0004c0004t0001g0110 a0004c0004t0001g0120 a0004c0004t0001g0123 a0004c0004t0001g0124 a0004c0004t0001g0127 a0004c0004t0001g0130 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0152 a0004c0004t0001g0154	11	302	0.0364	-72	c.118 others(91): Show c.1182+4874_1182+4945delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHOX_chrX_625791_656584	629149	GTTTCTCT others(65): Show GTTTCTCTCTCTCCATCTGTCTGTGTCTCTCTTTCTCTCTCTCTATCTCT CCCTCTCTCTCCCTGTCTGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0146 a0001c0001t0043g0146	1	220	0.0046	-72	c.-17 others(83): Show c.-1748_-1677delTTTCTCTCTCTCCATCTGTCTGTGTCTCTCTTTC TCTCTCTCTATCTCTCCCTCTCTCTCCCTGTCTGTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		1641		chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(65): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03041.hp1 HG03688.hp1 others(3): Show HG01106.hp1 HG03041.hp1 HG03688.hp1 HG04115.hp1 NA18945.hp1 NA19076.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0022 a0003c0010 others(1): Show a0002c0002 a0002c0022 a0003c0010 a0003c0021	a0002c0002t0001 a0002c0002t0004 a0002c0002t0030 others(3): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0030 a0002c0022t0001 a0003c0010t0002 a0003c0021t0005	a0002c0002t0001g0098 a0002c0002t0004g0095 a0002c0002t0030g0077 others(3): Show a0002c0002t0001g0098 a0002c0002t0004g0095 a0002c0002t0030g0077 a0002c0022t0001g0117 a0003c0010t0002g0107 a0003c0021t0005g0040	6	175	0.0343	-72	c.295 others(91): Show c.2957+9265_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116946485	TTTTATAT others(65): Show TTTTATATATAAATATATAAAATGATTTATATATAAATATATAAAATGAT TTATATATAAATATATAAAATGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01123.hp1 others(40): Show HG00609.hp2 HG00735.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18747.hp1 NA18980.hp1 NA18991.hp2 NA18995.hp2 NA19001.hp1 NA19054.hp2 NA19064.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065 a0001c0002t0016 a0001c0002t0026 a0001c0002t0042 a0001c0002t0043	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0003g0001 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0007g0233 a0001c0001t0007g0241 a0001c0001t0023g0153 a0001c0001t0023g0154 a0001c0001t0024g0151 a0001c0001t0024g0152 a0001c0001t0025g0156 a0001c0001t0040g0289 a0001c0001t0044g0003 a0001c0001t0045g0290 a0001c0001t0058g0269 a0001c0001t0059g0285 a0001c0001t0060g0264 a0001c0001t0065g0166 a0001c0002t0016g0138 a0001c0002t0016g0140 a0001c0002t0016g0141 a0001c0002t0016g0142 a0001c0002t0026g0143 a0001c0002t0026g0144 a0001c0002t0042g0136 a0001c0002t0043g0137	43	292	0.1473	-72	c.617 others(89): Show c.617-1539_617-1468delTCATTTTATATATTTATATATAAATCAT TTTATATATTTATATATAAATCATTTTATATATTTATATATAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SIPA1L2_chr1_232392965_232635133	232415800	CAGTCAGT others(65): Show CAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGAAC ACGGGCACCACTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02451.hp1 others(11): Show HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0055 a0008c0014 a0021c0059	a0001c0001t0010 a0001c0002t0001 a0001c0003t0009 others(7): Show a0001c0001t0010 a0001c0002t0001 a0001c0003t0009 a0001c0003t0010 a0001c0003t0025 a0001c0003t0027 a0001c0055t0009 a0008c0014t0013 a0008c0014t0016 a0021c0059t0018	a0001c0001t0010g0285 a0001c0002t0001g0170 a0001c0002t0001g0173 others(11): Show a0001c0001t0010g0285 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0025g0286 a0001c0003t0027g0291 a0001c0055t0009g0169 a0008c0014t0013g0274 a0008c0014t0013g0279 a0008c0014t0016g0168 a0021c0059t0018g0079	14	292	0.0480	-72	c.463 others(89): Show c.4631-247_4631-176delCTGGGAGGGACAGTGGTGCCCGTGTTCT GACTGACTCTGGGAGGGACAGTGGTGCCCGTGTTCTGACTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIRT3_chr11_210030_241342	223786	GGCCCATG others(65): Show GGCCCATGAGATGACTCCTGTACCCCTCCCTTCCCCTGCCCTCCAGCCTC CTCCCTGCACAGGCCTGCCGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(74): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18945.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18971.hp2 NA18979.hp2 NA19003.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19080.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0008c0013 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0005t0001 a0001c0007t0004 a0008c0013t0004 a0009c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0026 others(42): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0001g0202 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0091 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0182 a0001c0001t0004g0187 a0001c0001t0016g0114 a0001c0005t0001g0014 a0001c0005t0001g0204 a0001c0007t0004g0025 a0008c0013t0004g0171 a0009c0012t0001g0090	77	414	0.1860	-72	c.969 others(87): Show c.969+220_969+291delTGTCGGCAGGCCTGTGCAGGGAGGAGGCTG GAGGGCAGGGGAAGGGAGGGGTACAGGAGTCATCTCATGGGC	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT3_chr11_210030_241342	223904	CCTCCTCC others(65): Show CCTCCTCCCTGCACAGGCCTGCCGACAGCCCATGAGGTGACTCCTGTACC CCTCCCTTCCCCTGCCCTCCAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00673.hp1 others(63): Show HG00099.hp2 HG00423.hp2 HG00673.hp1 HG01081.hp2 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG02080.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp1 NA18984.hp1 NA18987.hp1 NA19000.hp2 NA19007.hp2 NA19012.hp2 NA19064.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0011t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0012 a0002c0002t0015 a0006c0008t0008	a0001c0001t0001g0150 a0001c0001t0002g0137 a0001c0001t0003g0170 others(28): Show a0001c0001t0001g0150 a0001c0001t0002g0137 a0001c0001t0003g0170 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0018g0138 a0001c0011t0001g0127 a0002c0002t0003g0002 a0002c0002t0003g0010 a0002c0002t0003g0028 a0002c0002t0003g0055 a0002c0002t0003g0058 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0007g0016 a0002c0002t0007g0060 a0002c0002t0012g0216 a0002c0002t0015g0220 a0006c0008t0008g0051	66	414	0.1594	-72	c.969 others(87): Show c.969+102_969+173delTCTGGAGGGCAGGGGAAGGGAGGGGTACAG GAGTCACCTCATGGGCTGTCGGCAGGCCTGTGCAGGGAGGAG	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT3_chr11_210030_241342	223940	GTGACTCC others(65): Show GTGACTCCTGTACCCCTCCCTTCCCCTGCCCTCCAGACTCCTCCCTGCAC AGGCCTGCCGACAGCCCATGAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02976.hp2 others(1): Show HG01109.hp2 HG02257.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0035 a0001c0001t0010g0052 a0001c0001t0003g0035 a0001c0001t0010g0052	4	414	0.0097	-72	c.969 others(86): Show c.969+66_969+137delTCTCATGGGCTGTCGGCAGGCCTGTGCAGGG AGGAGTCTGGAGGGCAGGGGAAGGGAGGGGTACAGGAGTCA	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT3_chr11_210030_241342	223976	ACTCCTCC others(65): Show ACTCCTCCCTGCACAGGCCTGCCGACAGCCCATGAGATGACTCCTGTACC CCTCCCTTCCCCTGCCCTCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0203 a0001c0001t0020g0203	1	414	0.0024	-72	c.969 others(86): Show c.969+30_969+101delGCTGGAGGGCAGGGGAAGGGAGGGGTACAGG AGTCATCTCATGGGCTGTCGGCAGGCCTGTGCAGGGAGGAG	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1061094	AACCCCTG others(65): Show AACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTC ACCCGCCGCACCCGCCGTGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03654.hp1 HG00741.hp1 HG03654.hp1	a0002 a0002	a0002c0023 a0002c0025 a0002c0023 a0002c0025	a0002c0023t0004 a0002c0025t0004 a0002c0023t0004 a0002c0025t0004	a0002c0023t0004g0010 a0002c0025t0004g0061 a0002c0023t0004g0010 a0002c0025t0004g0061	2	118	0.0170	-72	c.274 others(89): Show c.2740-715_2740-644delCCCGCACGGCGGGTGCGGCGGGTGAGAC GCAGGGGTCCCGCACGGCGGGTGCGGTGGGTGAGACGCAGGGGT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061274	ACCGCACC others(65): Show ACCGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCGCCGT GCGGGATCCCTGAGTCTCACCCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0022 a0001c0007t0005g0022	1	118	0.0085	-72	c.274 others(89): Show c.2740-895_2740-824delCGGGTGAGACTCAGGGATCCCGCACGGC GGGTGCGGCGGGTGAGACTCAGGGATCCTGCACGGCAGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070833	GAGCCCCC others(65): Show GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	118	0.0085	-72	c.224 others(91): Show c.2241+2728_2241+2799delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070961	CCCCCAGC others(65): Show CCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	-72	c.224 others(91): Show c.2241+2600_2241+2671delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071543	GAGCCCCC others(65): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01517.hp2 HG01255.hp1 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0055 a0002c0002t0002g0040 a0001c0001t0001g0055 a0002c0002t0002g0040	2	118	0.0170	-72	c.224 others(91): Show c.2241+2018_2241+2089delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071629	CCCCCAGC others(65): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	-72	c.224 others(91): Show c.2241+1932_2241+2003delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071919	CCCCCAGC others(65): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG01192.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0003 a0001c0001t0001 a0001c0014t0003	a0001c0001t0001g0055 a0001c0014t0003g0093 a0001c0001t0001g0055 a0001c0014t0003g0093	2	118	0.0170	-72	c.224 others(91): Show c.2241+1642_2241+1713delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A17_chr22_40764630_40824346	40821750	GTATATAT others(65): Show GTATATATATATATATACGTATATATATATACGTATATATACGTATATAT ATATATATATATATATACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	326	0.0031	-72	c.-25 others(83): Show c.-2574_-2503delTGTGTGTATATATATATATATATATATATACGTA TATATACGTATATATATATACGTATATATATATATATA	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		2405		chr22	TogoVar
SLC27A5_chr19_58493333_58516992	58502666	AACAGTTA others(65): Show AACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAG TGAGTGAGTAGATGGATGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp1 HG02486.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0160 a0001c0001t0001g0033 a0001c0001t0001g0160	3	424	0.0071	-72	c.105 others(91): Show c.1058-1328_1058-1257delCCACCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502735	GTGGACAG others(65): Show GTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAG TAGTGAGTGAGTAGATGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03942.hp2 HG03041.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0179 a0001c0001t0001g0109 a0001c0001t0001g0179	2	424	0.0047	-72	c.105 others(91): Show c.1058-1397_1058-1326delGCCATCCATCTACTCACTCACTACTC TAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC39A12_chr10_17946918_18048285	18041700	TATATATG others(65): Show TATATATGTATATACATATGTATATATGTGTATATATGTATATACATGTA TATATGTGTATACATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0298 a0003c0002t0001g0298	1	368	0.0027	-72	c.194 others(90): Show c.1948-1000_1948-929delATGTATATACATATGTATATATGTGTA TATATGTATATACATGTATATATGTGTATACATATGTATACATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC45A4_chr8_141202174_141313288	141252835	CCGTGTTT others(65): Show CCGTGTTTTCATGCCCACCTGCCCGTGTCTGTGAATTTCTGTTTTCATAT CCACCTGTGTGTCTGTGAATTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(69): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01255.hp2 HG01433.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0003 a0001c0004 a0001c0006 others(11): Show a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0017 a0001c0018 a0001c0022 a0001c0028 a0002c0001 a0002c0005 a0003c0002 a0003c0012 a0006c0024 a0009c0026	a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 others(20): Show a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 a0001c0004t0006 a0001c0006t0037 a0001c0013t0015 a0001c0017t0001 a0001c0018t0027 a0001c0022t0001 a0001c0028t0033 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0013 a0002c0001t0020 a0002c0001t0039 a0002c0005t0007 a0002c0005t0012 a0003c0002t0002 a0003c0002t0023 a0003c0012t0002 a0006c0024t0007 a0009c0026t0001	a0001c0003t0001g0003 a0001c0003t0001g0018 a0001c0003t0001g0020 others(69): Show a0001c0003t0001g0003 a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0027 a0001c0003t0001g0065 a0001c0003t0001g0073 a0001c0003t0001g0080 a0001c0003t0001g0146 a0001c0003t0003g0171 a0001c0003t0003g0178 a0001c0003t0003g0184 a0001c0004t0004g0058 a0001c0004t0006g0079 a0001c0004t0006g0089 a0001c0004t0006g0091 a0001c0006t0037g0115 a0001c0013t0015g0024 a0001c0013t0015g0025 a0001c0017t0001g0011 a0001c0018t0027g0009 a0001c0022t0001g0077 a0001c0028t0033g0021 a0002c0001t0001g0012 a0002c0001t0001g0019 a0002c0001t0001g0022 a0002c0001t0001g0029 a0002c0001t0001g0036 a0002c0001t0001g0060 a0002c0001t0001g0062 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0072 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0078 a0002c0001t0001g0081 a0002c0001t0001g0088 a0002c0001t0001g0092 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0105 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0159 a0002c0001t0003g0164 a0002c0001t0003g0174 a0002c0001t0003g0179 a0002c0001t0003g0183 a0002c0001t0003g0185 a0002c0001t0004g0116 a0002c0001t0004g0117 a0002c0001t0013g0093 a0002c0001t0020g0127 a0002c0001t0039g0056 a0002c0005t0007g0119 a0002c0005t0007g0121 a0002c0005t0007g0122 a0002c0005t0012g0112 a0002c0005t0012g0114 a0002c0005t0012g0126 a0003c0002t0002g0113 a0003c0002t0002g0120 a0003c0002t0002g0123 a0003c0002t0023g0096 a0003c0012t0002g0082 a0003c0012t0002g0129 a0006c0024t0007g0111 a0009c0026t0001g0070	72	188	0.3830	-72	c.241 others(89): Show c.241+1082_241+1153delAAAATTCACAGACACACAGGTGGATATG AAAACAGAAATTCACAGACACGGGCAGGTGGGCATGAAAACACG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC5A4_chr22_32213464_32260347	32239527	TATATATA others(65): Show TATATATATATATATATATATATATATATATATATATATATATTTATATA TATATTTATATATATATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0090 a0003c0007t0001g0090	1	302	0.0033	-72	c.478 others(87): Show c.478-509_478-438delTAATTTATATATATATAAATATATATATAA ATATATATATATATATATATATATATATATATATATATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79920232	AGAGACGG others(65): Show AGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18999.hp2 NA18969.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0122 a0001c0001t0004g0003 a0001c0001t0004g0122	2	352	0.0057	-72	c.392 others(87): Show c.392-904_392-833delCCACTGACCTTGACCTCTCCCTCGGTTCCT GTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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