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
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(95): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0201 a0002c0002t0009g0201	1	251	0.0040	102	c.-15 others(113): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(95): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	251	0.0040	102	c.-15 others(113): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80685133	G G	GCCTCATT others(95): Show GCCTCATTCGGAGTCGCCCCTCATTCAGGGTCGCACCTCATTCGGAGTCG CCCCTCATTCAGGGTCGCACCTCATTCGGAGTCGCCCCTCATTCAGGGTC GCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(34): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0006 others(27): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0001c0057 a0001c0059 a0001c0064 a0001c0068 a0001c0070 a0001c0079 a0001c0088 a0001c0089 a0002c0063	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(32): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0008t0081 a0001c0009t0005 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0021t0065 a0001c0025t0051 a0001c0025t0052 a0001c0028t0005 a0001c0029t0085 a0001c0038t0006 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0007 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0057t0077 a0001c0059t0080 a0001c0064t0005 a0001c0068t0025 a0001c0070t0020 a0001c0079t0050 a0001c0088t0006 a0001c0089t0005 a0002c0063t0020	a0001c0004t0035g0004 a0001c0005t0074g0009 a0001c0005t0075g0008 others(34): Show a0001c0004t0035g0004 a0001c0005t0074g0009 a0001c0005t0075g0008 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0008t0081g0019 a0001c0009t0005g0143 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0021t0065g0112 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0005g0124 a0001c0029t0085g0012 a0001c0038t0006g0178 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0007g0176 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0057t0077g0016 a0001c0059t0080g0005 a0001c0064t0005g0074 a0001c0068t0025g0107 a0001c0070t0020g0003 a0001c0079t0050g0100 a0001c0088t0006g0142 a0001c0089t0005g0159 a0002c0063t0020g0001	37	192	0.1927	102	c.349 others(121): Show c.349-22660_349-22659insGCCCCTCATTCAGGGTCGCACCTCAT TCGGAGTCGCCCCTCATTCAGGGTCGCACCTCATTCGGAGTCGCCCCTCA TTCAGGGTCGCACCTCATTCGGAGTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685133	G G	GCCTCATT others(95): Show GCCTCATTCGGGGTCGCCCCTCATTCAGGGTCGCACCTCATTCGGAGTCG CCCCTCATTCAGGGTCGCACCTCATTCGGAGTCGCCCCTCATTCAGGGTC GCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0075 a0001c0056t0001g0075	1	156	0.0064	102	c.349 others(121): Show c.349-22698_349-22697insGGTCGCCCCTCATTCAGGGTCGCACC TCATTCGGAGTCGCCCCTCATTCAGGGTCGCACCTCATTCGGAGTCGCCC CTCATTCAGGGTCGCACCTCATTCGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(95): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACGTGT ATATGTGTATATAAACACGTGTATATGTGTATATAAACACATACGTGTAT ATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02809.hp1 others(6): Show HG01891.hp2 HG02572.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03453.hp2 NA18522.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0014 a0001c0001t0001g0215 a0001c0001t0001g0216 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0007 a0001c0001t0006g0219 a0001c0001t0009g0006 a0001c0001t0022g0008	9	185	0.0486	102	c.494 others(121): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAACA CATACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229120	A A	ACACATAC others(95): Show ACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTGTATAT AAACACGTGTATATGTGTATATAAACACATACGTGTATATGTGTATATAA ACG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	274	0.0036	102	c.494 others(121): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAACA CATACGTGTATATGTGTATATAAACG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9			chr3	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATACATA others(95): Show TATACATATATGTATATATACACACATATACATATATGTATATATACACA CATATACATATATGTATATATACACACATATACATATATGTATATATACA CAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0082 a0001c0002t0005g0082	1	71	0.0141	102	c.599 others(121): Show c.599-27701_599-27700insGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATATGTGTGTATATATACATATATGTAT ATGTGTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATATACA others(95): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CACATATACATATATGTATATATACACACATATACATATATGTATATATA CAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02615.hp1 HG02129.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0061 a0001c0001t0001 a0001c0001t0061	a0001c0001t0001g0097 a0001c0001t0061g0186 a0001c0001t0001g0097 a0001c0001t0061g0186	2	72	0.0278	102	c.599 others(121): Show c.599-27802_599-27701dupGTGTATATATACATATATGTATATGT GTGTATATATACATATATGTATATGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693651	T T	TCCACCTC others(95): Show TCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACCA CCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	40	0.0250	102	c.299 others(119): Show c.2992+373_2992+374insTCCACCACCACCTCCACCACCACCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACC ACCACCTCCACCACCACCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTN1_chr14_59590983_59875776	59750634	T T	TAATATAT others(95): Show TAATATATTATATCTATAATATATAATATATTATATCTATAATATATATT ATATCTATAATATATATATTATATCTATAAATATAATATATATTATATCT ATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	132	0.0076	102	c.242 others(119): Show c.242-4154_242-4153insTATAGATATAATATATATTATATTTATA GATATAATATATATATTATAGATATAATATATATTATAGATATAATATAT TATATATTATAGATATAATATATT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626704	T T	TATATATG others(95): Show TATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGT GTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0065 a0001c0001t0017g0065	1	200	0.0050	102	c.-21 others(113): Show c.-2120_-2119insATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1693		chr7	TogoVar
RYR1_chr19_38428691_38592564	38584521	T T	TAGCCCTG others(95): Show TAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCT GCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCAT CCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0006 a0006	a0006c0107 a0006c0107	a0006c0107t0001 a0006c0107t0001	a0006c0107t0001g0113 a0006c0107t0001g0113	1	216	0.0046	102	c.146 others(121): Show c.14647-406_14647-305dupCCCTGTGCCCCCCTATCCTGGCCCTG ACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTG CCCCCCATCCCAGCCCTGACCCCTCT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	101/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237313159	A A	ATATTGAA others(95): Show ATATTGAAGTATATAAATGTAGACATTTTTTCTTATTTTTAATTTTAATT TTTAAATAAGATATATAAGTATTGAAGTACAGTATTGAAGTACAGTATTG AAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG02451.hp2 others(1): Show HG00738.hp1 HG00741.hp2 HG02451.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0001c0041 a0001c0045 others(1): Show a0001c0018 a0001c0041 a0001c0045 a0002c0039	a0001c0018t0029 a0001c0041t0006 a0001c0045t0001 others(1): Show a0001c0018t0029 a0001c0041t0006 a0001c0045t0001 a0002c0039t0033	a0001c0018t0029g0041 a0001c0041t0006g0027 a0001c0045t0001g0073 others(1): Show a0001c0018t0029g0041 a0001c0041t0006g0027 a0001c0045t0001g0073 a0002c0039t0033g0030	4	100	0.0400	102	c.169 others(121): Show c.169-17716_169-17715insTGAAGTATATAAATGTAGACATTTTT TCTTATTTTTAATTTTAATTTTTAAATAAGATATATAAGTATTGAAGTAC AGTATTGAAGTACAGTATTGAAGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469525	A A	AATATATA others(95): Show AATATATATTATATAATATATATTATATATAATATATAATATATATTATA TATAATATATAATATATATTATATATAATATATAATATATATAATATATA TTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	112	0.0089	102	c.193 others(121): Show c.193-29565_193-29564insAAATATATATTATATATATTATATAT TATATATAATATATATTATATATTATATATAATATATATTATATATTATA TATAATATATATTATATAATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(95): Show TATAATATATAATTATATAATATATATAATATATAATATATAATATATAT TATATATAATATATAATATATATAATATATATTTATATATTATATATAAT ATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	29	0.0345	102	c.193 others(121): Show c.193-29585_193-29584insTATATTATATATAATATATAAATATA TATTATATATATTATATATTATATATAATATATATTATATATTATATATT ATATATATTATATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(95): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT TATATATAACATATAATATATATAATATATATTTATATATTATATATAAT ATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	29	0.0345	102	c.193 others(121): Show c.193-29585_193-29584insTATATTATATATAATATATAAATATA TATTATATATATTATATGTTATATATAATATATATTATATATTATATATA ATATATATTATATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(95): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAT TATATATAATATATAATATATATAATATATATTTATATATTATATATAAT ATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp1 others(12): Show HG00408.hp2 HG00558.hp1 HG00597.hp1 HG02280.hp2 HG02965.hp2 HG03209.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 NA18943.hp1 NA18952.hp2 NA18974.hp2 NA19002.hp1 NA19063.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0177 a0001c0001t0003g0066 a0001c0001t0003g0104 others(12): Show a0001c0001t0002g0177 a0001c0001t0003g0066 a0001c0001t0003g0104 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0178 a0001c0003t0002g0181	15	43	0.3488	102	c.193 others(121): Show c.193-29585_193-29584insTATATTATATATAATATATAAATATA TATTATATATATTATATATTATATATAATATATATTATATATTATATATA ATATATATTATATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(95): Show TATAATATATAATTATATAATATATATTATATATTATATATAATATATAT TATATATAATATATAATATATATAATATATATTTATATATTATATATAAT ATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	29	0.0345	102	c.193 others(121): Show c.193-29585_193-29584insTATATTATATATAATATATAAATATA TATTATATATATTATATATTATATATAATATATATTATATATAATATATA ATATATATTATATAATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAT1_chrX_23778173_23791210	23780126	C C	CATATATA others(95): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	102	0.0098	102	c.-32 others(113): Show c.-3226_-3225insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATACCT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3046		chrX	TogoVar
SCD5_chr4_82624539_82803796	82712254	A A	ATATACAT others(95): Show ATATACATATGTATATATATATATATATATATATACATATATATATATAT ATATACATATATATATATATATACGTATATATATATACATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG06807.hp1 HG01243.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0024 a0001c0001t0001g0054	2	204	0.0098	102	c.233 others(119): Show c.233-6842_233-6841insCGTATATATATATATGTATATATATATA CGTATATATATATATATATGTATATATATATATATATATGTATATATATA TATATATATATATACATATGTATA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATACATATATATATATATATATAC ATATATATATATATATATACGTATATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATATATGTATATATATATATATATATGTATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATACATATATATATATATATATAT ACATATATATATATATATATACGTATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG02615.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0005 a0001c0001t0032	a0001c0001t0005g0076 a0001c0001t0032g0194 a0001c0001t0005g0076 a0001c0001t0032g0194	2	189	0.0106	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TACGTATATATATATATATATATGTATATATATATATATATATATGTATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATACATATATATATATATATATAT ATACATATATATATATATACGTATATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATGTATATATATATATATATATATATGTATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATATACATATATATATATATATAT ACATATATATATATATACGTATATATATATACATATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0208 a0001c0002t0008g0208	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATATGTATATA TATATACGTATATATATATATATGTATATATATATATATATATGTATATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATATATACATATATATATATATAT ACACATATATATATATATACGTATATATATACATATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0006 a0001c0001t0017g0006	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATATGTATATA TATACGTATATATATATATATGTGTATATATATATATATATGTATATATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATATATACATATATATATATATAT ACACATATATATATATATATACGTATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TACGTATATATATATATATATGTGTATATATATATATATATGTATATATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATATATACATATATATATATATAT ATACATATATATATATATATACGTATATATATATACATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0207 a0001c0002t0029g0207	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(95): Show ATACATATATATATATATATATATATATATATATACATATATATATATAT ATATACATATATATATATATACGTATATATATATACATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	188	0.0053	102	c.233 others(119): Show c.233-6844_233-6843insCGTATATATATATATATGTATATATATA TACGTATATATATATATATGTATATATATATATATATATGTATATATATA TATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(95): Show ACATATATATATATATATATATATATATACATATATATATATATATATAC ACATATATATATATATATACGTATATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	195	0.0051	102	c.233 others(119): Show c.233-6846_233-6845insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATATGTGTATATATATATATATATATGTATA TATATATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288519	C C	CTGCTCCG others(95): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCTGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0148 a0003c0004t0003g0148	1	288	0.0035	102	c.166 others(119): Show c.1662+482_1662+483insTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCTGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(95): Show CACATATATACGTATGTATATATATACACATATATACGTATGTATATATA TACACATATATACGTATGTATATATATACACATATATACGTATGTATATA TAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	261	0.0038	102	c.114 others(121): Show c.1140+1878_1140+1879insATATATATACATACGTATATATGTGT ATATATATACATACGTATATATGTGTATATATATACATACGTATATATGT GTATATATATACATACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280492	C C	CTCCTGTC others(95): Show CTCCTGTCCCTTCCCCTCACCCATCCTTCTGTCCCTTCCCCTCACCCATC CTGCTGTCCCTTCCCCTCACCCATCCTTCTGTCCCTTCCCCTCACCCATC CTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0040 a0002c0002t0040g0040	1	189	0.0053	102	c.484 others(121): Show c.484+10553_484+10554insCAGGATGGGTGAGGGGAAGGGACAGA AGGATGGGTGAGGGGAAGGGACAGCAGGATGGGTGAGGGGAAGGGACAGA AGGATGGGTGAGGGGAAGGGACAGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280492	C C	CTGCTGTC others(95): Show CTGCTGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATC CTCCCGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATC CTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	189	0.0053	102	c.484 others(121): Show c.484+10553_484+10554insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACAGG AGGATGGGTGAGGGGAAGGGACAGCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280494	C C	CCTGTCCC others(95): Show CCTGTCCCTTCCCCTCACCCATCCTCCCGTCCCTTCCCCTCACCCATCCT CCCGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCCT CCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0033 a0002c0002t0004g0033	1	50	0.0200	102	c.484 others(121): Show c.484+10551_484+10552insAGGAGGATGGGTGAGGGGAAGGGACA GGAGGATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACG GGAGGATGGGTGAGGGGAAGGGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(95): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0010 a0010	a0010c0082 a0010c0082	a0010c0082t0001 a0010c0082t0001	a0010c0082t0001g0076 a0010c0082t0001g0076	1	84	0.0119	102	c.199 others(121): Show c.1994+1418_1994+1419insATCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975911	G G	GGGTCCTC others(95): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG ACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0050 a0001c0039t0050	a0001c0039t0050g0022 a0001c0039t0050g0022	1	114	0.0088	102	c.199 others(121): Show c.1994+1416_1994+1417insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975914	T T	TCCTCCAG others(95): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0074 a0015c0074	a0015c0074t0042 a0015c0074t0042	a0015c0074t0042g0081 a0015c0074t0042g0081	1	113	0.0088	102	c.199 others(121): Show c.1994+1419_1994+1420insCCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(95): Show AGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0021 a0021	a0021c0068 a0021c0068	a0021c0068t0014 a0021c0068t0014	a0021c0068t0014g0014 a0021c0068t0014g0014	1	105	0.0095	102	c.199 others(121): Show c.1994+1412_1994+1413insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG GGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976013	G G	GGGTCCTC others(95): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACA GAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0076 a0004c0076	a0004c0076t0003 a0004c0076t0003	a0004c0076t0003g0073 a0004c0076t0003g0073	1	112	0.0089	102	c.199 others(121): Show c.1994+1469_1994+1470insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCCACACAGACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976034	G G	GGGGTCCC others(95): Show GGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0038 a0001c0038t0013g0038	1	24	0.0417	102	c.199 others(121): Show c.1994+1514_1994+1515insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976058	C C	CGCAGAGG others(95): Show CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0064 a0002c0013t0064	a0002c0013t0064g0023 a0002c0013t0064g0023	1	113	0.0088	102	c.199 others(121): Show c.1994+1514_1994+1515insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG GGGGTCCCGGGGCTGAGGCTGCCATG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976066	G G	GTCCTCCA others(95): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGA GGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0029 a0029	a0029c0084 a0029c0084	a0029c0084t0045 a0029c0084t0045	a0029c0084t0045g0011 a0029c0084t0045g0011	1	110	0.0091	102	c.199 others(121): Show c.1994+1564_1994+1565insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976115	G G	GGGTCCTC others(95): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAG ACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0090 a0002c0090	a0002c0090t0010 a0002c0090t0010	a0002c0090t0010g0047 a0002c0090t0010g0047	1	115	0.0087	102	c.199 others(121): Show c.1994+1615_1994+1616insACAGACGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976115	G G	GGGTCCTC others(95): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCA GAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0053 a0001c0062t0053	a0001c0062t0053g0042 a0001c0062t0053g0042	1	115	0.0087	102	c.199 others(121): Show c.1994+1641_1994+1642insGGGGTCCCGGGGCTGAGGCTGCCACG CAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976117	G G	GTCCTCCA others(95): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAG GATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0074 a0015c0074	a0015c0074t0042 a0015c0074t0042	a0015c0074t0042g0081 a0015c0074t0042g0081	1	112	0.0089	102	c.199 others(121): Show c.1994+1615_1994+1616insACAGAGGATCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976169	T T	TCCTCCAG others(95): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0020 a0020	a0020c0063 a0020c0063	a0020c0063t0007 a0020c0063t0007	a0020c0063t0007g0106 a0020c0063t0007g0106	1	115	0.0087	102	c.199 others(121): Show c.1994+1718_1994+1719insCAGAGGGCCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976187	A A	AGGGTCCC others(95): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCAC TGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0010 a0010	a0010c0082 a0010c0082	a0010c0082t0001 a0010c0082t0001	a0010c0082t0001g0076 a0010c0082t0001g0076	1	97	0.0103	102	c.199 others(121): Show c.1994+1692_1994+1693insGGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976217	G G	GGGTCCTC others(95): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACA GAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0035 a0035	a0035c0073 a0035c0073	a0035c0073t0001 a0035c0073t0001	a0035c0073t0001g0016 a0035c0073t0001g0016	1	115	0.0087	102	c.199 others(121): Show c.1994+1718_1994+1719insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976220	T T	TCCTCCAG others(95): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0066 a0003c0001t0066	a0003c0001t0066g0041 a0003c0001t0066g0041	1	115	0.0087	102	c.199 others(121): Show c.1994+1718_1994+1719insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976314	G G	GCAGACGG others(95): Show GCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0069 a0031c0069t0069	a0031c0069t0069g0064 a0031c0069t0069g0064	1	102	0.0098	102	c.199 others(121): Show c.1994+1773_1994+1774insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCCACACAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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