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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RPTOR_chr17_80539838_80971368	80918456	CGAGCACC others(47): Show CGAGCACCCTCGCCGGAGTCATAGCCACGAGCACCCTCGCGGGGGTCATA GCCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02015.hp2 others(18): Show HG00423.hp1 HG00544.hp2 HG02015.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 NA18747.hp1 NA18944.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0009 a0001c0019 others(12): Show a0001c0006 a0001c0009 a0001c0019 a0001c0020 a0001c0022 a0001c0034 a0001c0035 a0001c0045 a0001c0048 a0001c0050 a0001c0053 a0001c0060 a0001c0061 a0001c0078 a0002c0063	a0001c0006t0063 a0001c0006t0082 a0001c0009t0005 others(17): Show a0001c0006t0063 a0001c0006t0082 a0001c0009t0005 a0001c0009t0078 a0001c0019t0042 a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 a0001c0022t0001 a0001c0022t0022 a0001c0034t0004 a0001c0035t0010 a0001c0045t0091 a0001c0048t0073 a0001c0050t0006 a0001c0053t0006 a0001c0060t0001 a0001c0061t0009 a0001c0078t0041 a0002c0063t0020	a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0009t0005g0143 others(18): Show a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0009t0005g0143 a0001c0009t0078g0021 a0001c0019t0042g0092 a0001c0020t0048g0097 a0001c0020t0064g0193 a0001c0020t0093g0034 a0001c0022t0001g0130 a0001c0022t0001g0170 a0001c0022t0022g0098 a0001c0034t0004g0131 a0001c0035t0010g0062 a0001c0045t0091g0036 a0001c0048t0073g0144 a0001c0050t0006g0147 a0001c0053t0006g0122 a0001c0060t0001g0135 a0001c0061t0009g0040 a0001c0078t0041g0103 a0002c0063t0020g0001	21	191	0.1099	-54	c.252 others(73): Show c.2521-4255_2521-4202delCGGAGTCATAGCCACGAGCACCCTCG CGGGGGTCATAGCCATGAGCACCCTCGC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918494	GCGGGGGT others(47): Show GCGGGGGTCATAGCCATGAGCACCCTCGCGGGGGTCATAGCCATGAGCAC CCTCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0062 a0001c0012 a0002c0062	a0001c0012t0003 a0002c0062t0018 a0001c0012t0003 a0002c0062t0018	a0001c0012t0003g0192 a0002c0062t0018g0182 a0001c0012t0003g0192 a0002c0062t0018g0182	2	194	0.0103	-54	c.252 others(73): Show c.2521-4210_2521-4157delCACCCTCGCGGGGGTCATAGCCATGA GCACCCTCACGGGGGTCATAGCCATGAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD4_chr11_126197096_126216650	126214884	GGAACTTG others(47): Show GGAACTTGCGTTTATCACAAATTTAAGGTTAATTAGTGGTATAAAGTTAA GTTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	414	0.0024	-54	c.-33 others(65): Show c.-3300_-3247delGTAACTTAACTTTATACCACTAATTAACCTTAAA TTTGTGATAAACGCAAGTTC		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding					3235		chr11	TogoVar
RTN1_chr14_59590983_59875776	59749324	ATATCTAT others(47): Show ATATCTATATATATCTATATATATCTATATATATCTATATATATATCTAT ATATC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG03516.hp1 others(1): Show HG01496.hp1 HG02145.hp1 HG03516.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0156 a0006c0005t0001g0008	4	170	0.0235	-54	c.242 others(71): Show c.242-2897_242-2844delGATATATAGATATATATATAGATATATA TAGATATATATAGATATATATAGATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87715331	ATAATTAA others(47): Show ATAATTAATTTATAATAATTATATATAATTAATTTATAATAATTATATAA TCAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01192.hp1 others(35): Show HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02129.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp2 NA19001.hp2 NA19005.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp2 NA19083.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(15): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0074 a0001c0001t0076 a0002c0002t0002 a0002c0002t0018	a0001c0001t0002g0030 a0001c0001t0002g0137 a0001c0001t0002g0162 others(35): Show a0001c0001t0002g0030 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0200 a0001c0001t0012g0031 a0001c0001t0012g0174 a0001c0001t0012g0176 a0001c0001t0012g0177 a0001c0001t0013g0001 a0001c0001t0013g0149 a0001c0001t0013g0173 a0001c0001t0018g0171 a0001c0001t0018g0175 a0001c0001t0020g0033 a0001c0001t0020g0035 a0001c0001t0021g0028 a0001c0001t0021g0032 a0001c0001t0022g0181 a0001c0001t0022g0182 a0001c0001t0027g0165 a0001c0001t0027g0180 a0001c0001t0035g0034 a0001c0001t0038g0183 a0001c0001t0041g0001 a0001c0001t0044g0169 a0001c0001t0046g0161 a0001c0001t0047g0172 a0001c0001t0074g0170 a0001c0001t0076g0179 a0002c0002t0002g0029 a0002c0002t0002g0036 a0002c0002t0018g0140	38	198	0.1919	-54	c.458 others(71): Show c.458+4677_458+4730delTAATTAATTTATAATAATTATATATAAT TAATTTATAATAATTATATAATCAAT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10						chr7	TogoVar
RXRA_chr9_134321455_134445585	134422557	GTCCCCAC others(47): Show GTCCCCACTCCCGGGACACTCCCCTCTCCCGGGACACTCCCCGCTCCCAG GACGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01243.hp1 others(51): Show HG00735.hp1 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0041 a0001c0001t0044 a0001c0001t0048 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059	a0001c0001t0003g0080 a0001c0001t0003g0166 a0001c0001t0004g0005 others(50): Show a0001c0001t0003g0080 a0001c0001t0003g0166 a0001c0001t0004g0005 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0148 a0001c0001t0004g0153 a0001c0001t0004g0160 a0001c0001t0004g0195 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0007g0119 a0001c0001t0007g0203 a0001c0001t0008g0037 a0001c0001t0008g0087 a0001c0001t0008g0131 a0001c0001t0008g0141 a0001c0001t0009g0098 a0001c0001t0009g0130 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0010g0101 a0001c0001t0010g0122 a0001c0001t0010g0163 a0001c0001t0010g0213 a0001c0001t0011g0099 a0001c0001t0011g0121 a0001c0001t0011g0132 a0001c0001t0011g0140 a0001c0001t0012g0038 a0001c0001t0012g0151 a0001c0001t0012g0159 a0001c0001t0012g0162 a0001c0001t0014g0085 a0001c0001t0014g0173 a0001c0001t0015g0102 a0001c0001t0015g0114 a0001c0001t0015g0168 a0001c0001t0016g0115 a0001c0001t0016g0155 a0001c0001t0016g0207 a0001c0001t0020g0154 a0001c0001t0020g0182 a0001c0001t0023g0149 a0001c0001t0023g0150 a0001c0001t0026g0127 a0001c0001t0041g0139 a0001c0001t0044g0136 a0001c0001t0048g0024 a0001c0001t0056g0143 a0001c0001t0058g0117 a0001c0001t0059g0210	54	230	0.2348	-54	c.910 others(69): Show c.910+782_910+835delGGGACACTCCCCGCTCCCAGGACGCTCCCC ACTCCCGGGACACTCCCCTCTCCC		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134422587	GGGACACT others(47): Show GGGACACTCCCCGCTCCCAGGACGCTCCCCACTCCCGGGACACTCCCCTC TCCCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp1 HG02293.hp1 others(6): Show HG01069.hp2 HG02145.hp1 HG02293.hp1 HG03927.hp2 NA18939.hp1 NA18947.hp1 NA18955.hp1 NA18995.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0013 a0001c0001t0050 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0050 a0001c0001t0053 a0001c0003t0013	a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0069 others(6): Show a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0069 a0001c0001t0003g0142 a0001c0001t0013g0188 a0001c0001t0013g0197 a0001c0001t0050g0042 a0001c0001t0053g0006 a0001c0003t0013g0034	9	230	0.0391	-54	c.910 others(69): Show c.910+794_910+847delGCTCCCAGGACGCTCCCCACTCCCGGGACA CTCCCCTCTCCCCGGACACTCCCC		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
SAA1_chr11_18261264_18274967	18268816	GAGCAAGA others(47): Show GAGCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA ATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0009 a0011	a0001c0004 a0003c0003 a0008c0015 others(2): Show a0001c0004 a0003c0003 a0008c0015 a0009c0013 a0011c0014	a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 others(3): Show a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 a0008c0015t0001 a0009c0013t0001 a0011c0014t0001	a0001c0004t0001g0006 a0001c0004t0001g0016 a0001c0004t0001g0017 others(13): Show a0001c0004t0001g0006 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0040 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0003g0006 a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0018 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0042 a0008c0015t0001g0016 a0009c0013t0001g0003 a0011c0014t0001g0003	116	440	0.2636	-54	c.92- others(67): Show c.92-377_92-324delGCAAGACTCTGTCTAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAATATAA		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(47): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp2 HG02896.hp1 HG02258.hp1 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0124 a0001c0001t0003g0125 a0001c0003t0002g0126 a0001c0001t0002g0124 a0001c0001t0003g0125 a0001c0003t0002g0126	3	4	0.7500	-54	c.13+ others(71): Show c.13+15985_13+16038delATATATATATATATATATATATATATAT ATATATATATATATATATATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3						chr8	TogoVar
SAR1B_chr5_134596149_134637828	134615677	CGTGGTGG others(47): Show CGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	320	0.0031	-54	c.179 others(71): Show c.179-2975_179-2922delCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGACTACAGGCGCCTGCCACCAC		SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6						chr5	TogoVar
SAT1_chrX_23778173_23791210	23780106	TATATACG others(47): Show TATATACGTATATATACACACATATATATGTGTATATATATGTATATATA TATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	328	0.0061	-54	c.-32 others(65): Show c.-3245_-3192delATATACGTATATATACACACATATATATGTGTAT ATATATGTATATATATATAC		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3066		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1137316	GGTGGGGG others(47): Show GGTGGGGGGAGGCTCGGGCCGGGGTGCGGTGGGGGGAGGCTCGGGCCGGG GTGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00673.hp2 others(20): Show HG00408.hp2 HG00438.hp2 HG00673.hp2 HG01123.hp2 HG01255.hp2 HG01928.hp1 HG01943.hp1 HG02129.hp2 HG02630.hp2 HG03139.hp2 HG03516.hp2 HG03688.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18945.hp1 NA19005.hp1 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0023 a0001c0034 a0002c0008 a0003c0014 a0011c0019	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0023t0001 a0001c0034t0001 a0002c0008t0001 a0003c0014t0001 a0011c0019t0001	a0001c0001t0001g0166 a0001c0005t0001g0056 a0001c0005t0001g0091 others(20): Show a0001c0001t0001g0166 a0001c0005t0001g0056 a0001c0005t0001g0091 a0001c0005t0001g0103 a0001c0005t0001g0115 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0138 a0001c0005t0001g0145 a0001c0006t0001g0117 a0001c0006t0001g0152 a0001c0007t0001g0028 a0001c0007t0001g0135 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0023t0001g0139 a0001c0034t0001g0067 a0002c0008t0001g0120 a0002c0008t0001g0126 a0003c0014t0001g0003 a0003c0014t0001g0133 a0003c0014t0001g0134 a0011c0019t0001g0034	23	202	0.1139	-54	c.280 others(71): Show c.280-9605_280-9552delTGCACCCCGGCCCGAGCCTCCCCCCACC GCACCCCGGCCCGAGCCTCCCCCCAC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137347	GGGGGAGG others(47): Show GGGGGAGGCTCGGGCCGGGGTGCAGTGGGGGGAGGCTCGGGCCGGGGTGC GGTGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG03486.hp1 others(1): Show HG02109.hp1 HG02717.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0015 a0001c0030 a0001c0006 a0001c0015 a0001c0030	a0001c0006t0001 a0001c0015t0001 a0001c0030t0001 a0001c0006t0001 a0001c0015t0001 a0001c0030t0001	a0001c0006t0001g0109 a0001c0015t0001g0017 a0001c0015t0001g0108 others(1): Show a0001c0006t0001g0109 a0001c0015t0001g0017 a0001c0015t0001g0108 a0001c0030t0001g0015	4	202	0.0198	-54	c.280 others(71): Show c.280-9636_280-9583delTCACCGCACCCCGGCCCGAGCCTCCCCC CACTGCACCCCGGCCCGAGCCTCCCC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137607	GGTGGGGG others(47): Show GGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGG GTGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0017 a0001c0015t0001g0108 a0001c0015t0001g0017 a0001c0015t0001g0108	2	191	0.0105	-54	c.279 others(71): Show c.279+9648_279+9701delTGCACCCCAGCCCGAGCCTCCCCCCACT GCACCCCAGCCCGAGCCTCCCCCCAC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137983	CTGGGGTG others(47): Show CTGGGGTGCAGTGGGGGGAGGCTCAGGCTGGGGGGAGGCTCGGGCTGGGG TGCGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	202	0.0050	-54	c.279 others(71): Show c.279+9272_279+9325delCCGCACCCCAGCCCGAGCCTCCCCCCAG CCTGAGCCTCCCCCCACTGCACCCCA		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBNO2_chr19_1102638_1179268	1138090	GGTGGGGG others(47): Show GGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGG GTGCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0071 a0003c0021t0001g0071	1	199	0.0050	-54	c.279 others(71): Show c.279+9165_279+9218delTGCACCCCAGCCCGAGCCTCCCCCCACC GCACCCCAGCCCGAGCCTCCCCCCAC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SBSN_chr19_35518367_35533311	35527295	AGCCTCAT others(47): Show AGCCTCATTTCCGGCCTGCCCCGCAGCATGGTGGGCCCCCTGGCCAAATC TCCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02145.hp2 HG02895.hp1 others(1): Show HG01891.hp2 HG02145.hp2 HG02895.hp1 HG02897.hp2	a0007 a0007	a0007c0012 a0007c0031 a0007c0012 a0007c0031	a0007c0012t0001 a0007c0031t0001 a0007c0012t0001 a0007c0031t0001	a0007c0012t0001g0024 a0007c0031t0001g0089 a0007c0012t0001g0024 a0007c0031t0001g0089	4	448	0.0089	-54	c.933 others(61): Show c.933_986delAGGGAGATTTGGCCAGGGGGCCCACCATGCTGCGGGGC AGGCCGGAAATGAGGC	p.Gly others(13): Show p.Gly312_Ala329del	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	1016/1946	933/1773	311/590			chr19	TogoVar
SBSN_chr19_35518367_35533311	35527655	CCCCTGGC others(47): Show CCCCTGGCCAAATCTCCCAGCCTCATTTCCGGCCTGCCCTGCAGCATGGT GGACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0035 a0005c0017t0001g0035	2	448	0.0045	-54	c.573 others(61): Show c.573_626delAGTCCACCATGCTGCAGGGCAGGCCGGAAATGAGGCTG GGAGATTTGGCCAGGG	p.Val others(13): Show p.Val192_Gly209del	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	656/1946	573/1773	191/590			chr19	TogoVar
SBSN_chr19_35518367_35533311	35527667	TCTCCCAG others(47): Show TCTCCCAGCCTCATTTCCGGCCTGCCCTGCAGCATGGTGGACTCCCTGGC CAAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01167.hp2 HG01169.hp2 others(6): Show HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01496.hp2 HG01981.hp2 HG01993.hp1 HG02738.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0001 a0001c0015t0001g0026 a0001c0002t0001g0001 a0001c0015t0001g0026	9	448	0.0201	-54	c.561 others(61): Show c.561_614delGTTTGGCCAGGGAGTCCACCATGCTGCAGGGCAGGCCG GAAATGAGGCTGGGAG	p.Phe others(13): Show p.Phe188_Arg205del	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	644/1946	561/1773	187/590			chr19	TogoVar
SBSN_chr19_35518367_35533311	35527739	GGCCTGCC others(47): Show GGCCTGCCCTGCAGCATGGTGGACTCCCTGGCCAAACCTCCCAGCCTCAT TTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01515.hp1 HG02683.hp1 NA20805.hp2 HG01515.hp1 HG02683.hp1 NA20805.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0020 a0005c0011t0001g0020	3	448	0.0067	-54	c.489 others(61): Show c.489_542delTGGAAATGAGGCTGGGAGGTTTGGCCAGGGAGTCCACC ATGCTGCAGGGCAGGC	p.Gly others(13): Show p.Gly164_Ala181del	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	572/1946	489/1773	163/590			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27918643	GGAGGAGG others(47): Show GGAGGAGGAAAAGGAAGATGAGGAGGAAAAGGAAGATGAGGAGGAAAAGG AAGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(162): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0022 a0002c0006 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0002c0021 a0003c0011 a0003c0014 a0004c0012 a0004c0028 a0005c0019 a0005c0029 a0006c0026 a0006c0027 a0007c0033 a0008c0030 a0009c0031 a0011c0032 a0012c0020	a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 others(83): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0043 a0001c0002t0048 a0001c0002t0051 a0001c0002t0056 a0001c0002t0065 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0039 a0001c0003t0040 a0001c0003t0042 a0001c0003t0044 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0004t0016 a0001c0004t0017 a0001c0004t0052 a0001c0004t0053 a0001c0004t0054 a0001c0005t0004 a0001c0007t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0012 a0001c0007t0013 a0001c0007t0014 a0001c0007t0023 a0001c0007t0033 a0001c0007t0050 a0001c0007t0064 a0001c0008t0001 a0001c0008t0004 a0001c0008t0008 a0001c0008t0010 a0001c0008t0027 a0001c0008t0046 a0001c0022t0006 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0007 a0002c0006t0009 a0002c0006t0018 a0002c0006t0023 a0002c0010t0003 a0002c0010t0006 a0002c0010t0055 a0002c0013t0006 a0002c0013t0011 a0002c0015t0036 a0002c0016t0009 a0002c0016t0021 a0002c0017t0020 a0002c0021t0019 a0003c0011t0029 a0003c0014t0031 a0003c0014t0062 a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0004c0012t0061 a0004c0028t0004 a0005c0019t0001 a0005c0019t0025 a0005c0029t0033 a0006c0026t0008 a0006c0027t0003 a0007c0033t0003 a0008c0030t0006 a0009c0031t0006 a0011c0032t0004 a0012c0020t0001	a0001c0001t0001g0193 a0001c0001t0024g0133 a0001c0002t0001g0143 others(162): Show a0001c0001t0001g0193 a0001c0001t0024g0133 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0209 a0001c0002t0001g0219 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0002g0021 a0001c0002t0002g0027 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0076 a0001c0002t0002g0102 a0001c0002t0002g0111 a0001c0002t0005g0168 a0001c0002t0005g0183 a0001c0002t0005g0201 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0270 a0001c0002t0005g0299 a0001c0002t0007g0047 a0001c0002t0007g0089 a0001c0002t0009g0016 a0001c0002t0009g0064 a0001c0002t0009g0107 a0001c0002t0012g0126 a0001c0002t0019g0033 a0001c0002t0021g0067 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0022g0007 a0001c0002t0024g0121 a0001c0002t0043g0103 a0001c0002t0048g0100 a0001c0002t0051g0114 a0001c0002t0056g0281 a0001c0002t0065g0312 a0001c0003t0001g0255 a0001c0003t0002g0030 a0001c0003t0009g0037 a0001c0003t0039g0024 a0001c0003t0040g0031 a0001c0003t0042g0010 a0001c0003t0044g0009 a0001c0004t0003g0145 a0001c0004t0003g0160 a0001c0004t0003g0212 a0001c0004t0003g0214 a0001c0004t0003g0217 a0001c0004t0003g0218 a0001c0004t0003g0228 a0001c0004t0006g0032 a0001c0004t0006g0044 a0001c0004t0006g0046 a0001c0004t0006g0061 a0001c0004t0011g0175 a0001c0004t0011g0248 a0001c0004t0016g0063 a0001c0004t0016g0099 a0001c0004t0017g0277 a0001c0004t0052g0275 a0001c0004t0053g0263 a0001c0004t0054g0232 a0001c0005t0004g0177 a0001c0005t0004g0178 a0001c0007t0002g0020 a0001c0007t0002g0098 a0001c0007t0004g0122 a0001c0007t0004g0158 a0001c0007t0005g0127 a0001c0007t0012g0267 a0001c0007t0013g0250 a0001c0007t0014g0135 a0001c0007t0023g0260 a0001c0007t0033g0163 a0001c0007t0050g0003 a0001c0007t0064g0313 a0001c0008t0001g0196 a0001c0008t0004g0179 a0001c0008t0004g0180 a0001c0008t0004g0227 a0001c0008t0004g0268 a0001c0008t0004g0287 a0001c0008t0004g0290 a0001c0008t0008g0284 a0001c0008t0008g0289 a0001c0008t0010g0054 a0001c0008t0027g0164 a0001c0008t0027g0247 a0001c0008t0027g0288 a0001c0008t0046g0096 a0001c0022t0006g0026 a0002c0006t0001g0152 a0002c0006t0001g0236 a0002c0006t0001g0269 a0002c0006t0001g0282 a0002c0006t0001g0298 a0002c0006t0002g0079 a0002c0006t0002g0104 a0002c0006t0005g0173 a0002c0006t0005g0198 a0002c0006t0005g0223 a0002c0006t0007g0084 a0002c0006t0009g0053 a0002c0006t0018g0221 a0002c0006t0018g0222 a0002c0006t0018g0235 a0002c0006t0023g0124 a0002c0010t0003g0147 a0002c0010t0003g0165 a0002c0010t0003g0166 a0002c0010t0003g0186 a0002c0010t0003g0197 a0002c0010t0003g0199 a0002c0010t0003g0208 a0002c0010t0003g0271 a0002c0010t0003g0280 a0002c0010t0006g0025 a0002c0010t0006g0068 a0002c0010t0006g0075 a0002c0010t0055g0246 a0002c0013t0006g0055 a0002c0013t0011g0256 a0002c0015t0036g0023 a0002c0016t0009g0066 a0002c0016t0009g0093 a0002c0016t0021g0051 a0002c0017t0020g0034 a0002c0017t0020g0035 a0002c0021t0019g0038 a0003c0011t0029g0008 a0003c0014t0031g0019 a0003c0014t0031g0022 a0003c0014t0062g0306 a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 a0004c0012t0007g0041 a0004c0012t0030g0039 a0004c0012t0061g0161 a0004c0028t0004g0200 a0005c0019t0001g0189 a0005c0019t0025g0190 a0005c0019t0025g0191 a0005c0029t0033g0128 a0006c0026t0008g0266 a0006c0027t0003g0294 a0007c0033t0003g0304 a0008c0030t0006g0040 a0009c0031t0006g0065 a0011c0032t0004g0276 a0012c0020t0001g0303	165	172	0.9593	-54	c.916 others(71): Show c.916+2874_916+2927delATCTTCCTTTTCCTCCTCATCTTCCTTT TCCTCCTCATCTTCCTTTTCCTCCTC		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8						chr8	TogoVar
SCARB1_chr12_124771856_124868864	124817046	GTGTATGT others(47): Show GTGTATGTGTGTATGCATGTGTAGGTACATGTGTGTGTATGTATGTGTGT GTGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0164 a0001c0002t0003g0164	1	353	0.0028	-54	c.284 others(69): Show c.284+450_284+503delTACACACACACATACATACACACACATGTA CCTACACATGCATACACACATACA		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	2/12						chr12	TogoVar
SCG3_chr15_51676503_51726026	51691911	CCCCTGAG others(47): Show CCCCTGAGCAGGAGCTGGGGTCTTCAGGGGGTTTTCCCTGAGGTAGAGCA CCTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01884.hp1 others(2): Show HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0072 a0001c0001t0007g0073 others(1): Show a0001c0001t0007g0016 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074	5	400	0.0125	-54	c.691 others(69): Show c.691-239_691-186delAGGAGCTGGGGTCTTCAGGGGGTTTTCCCT GAGGTAGAGCACCTTTCCCTGAGC		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196521	ACCTGGTG others(47): Show ACCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(107): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 others(3): Show a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 a0001c0005t0001g0004 a0001c0005t0001g0010 a0001c0005t0001g0016	110	312	0.3526	-54	c.20 others(65): Show c.2072_*2125delCCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGT GAGGGGACCTGGTGAGGAGG		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1947		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38963370	TATATATA others(47): Show TATATATATATATATATGATGGAGATATATATATATATATATATATATGA TGGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp2 others(14): Show HG00323.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp1 HG02602.hp2 HG02630.hp1 HG03654.hp1 NA18978.hp2 NA18986.hp1 NA18991.hp2 NA19087.hp2 NA19090.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0007 a0003c0004 others(1): Show a0001c0002 a0001c0007 a0003c0004 a0007c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0007t0005 a0003c0004t0001 a0003c0004t0012 a0007c0022t0001	a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0155 others(14): Show a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0163 a0001c0002t0001g0169 a0001c0002t0002g0156 a0001c0002t0004g0260 a0001c0007t0005g0299 a0003c0004t0001g0212 a0003c0004t0001g0214 a0003c0004t0001g0219 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0012g0229 a0007c0022t0001g0198	17	309	0.0550	-54	c.-27 others(73): Show c.-279-3001_-279-2948delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCN9A_chr2_166190185_166380944	166191680	TACACACA others(47): Show TACACACACATATATATATATGTATATATATATATATACACACATATATA TATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0259 a0001c0007t0005g0259	1	276	0.0036	-54	c.69 others(65): Show c.6938_*6991delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGT		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding					3504		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0286 a0008c0007t0004g0286	1	270	0.0037	-54	c.166 others(71): Show c.1662+240_1662+293delCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	TCTGCTCC others(47): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	270	0.0037	-54	c.166 others(71): Show c.1662+355_1662+408delCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288665	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	285	0.0035	-54	c.166 others(71): Show c.1662+630_1662+683delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	CCCCGAGT others(47): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0052 a0009c0014t0001g0052	1	269	0.0037	-54	c.166 others(71): Show c.1662+669_1662+722delAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288999	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	286	0.0035	-54	c.166 others(72): Show c.1662+964_1662+1017delGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	CCCCGTGT others(47): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0286 a0008c0007t0004g0286	1	265	0.0038	-54	c.166 others(73): Show c.1662+1078_1663-1103delGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289498	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0271 a0006c0010t0007g0271	1	275	0.0036	-54	c.166 others(71): Show c.1663-760_1663-707delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289635	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0275 a0006c0010t0007g0275	1	287	0.0035	-54	c.166 others(71): Show c.1663-634_1663-581delGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289955	TCTGCTCC others(47): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02976.hp2 NA18747.hp1 others(1): Show HG00544.hp1 HG02976.hp2 NA18747.hp1 NA18969.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0001 a0002c0002t0001 a0004c0008t0001	a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0089 others(1): Show a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0089 a0004c0008t0001g0224	4	283	0.0141	-54	c.166 others(71): Show c.1663-303_1663-250delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444791	GAATATAT others(47): Show GAATATATATACACATATATTCGTACGAATATATATACACATATATTCGT ACGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0242 a0006c0013t0002g0242	1	255	0.0039	-54	c.114 others(73): Show c.1140+1914_1140+1967delTTCGTACGAATATATGTGTATATATA TTCGTACGAATATATGTGTATATATATT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	AGACCTCA others(47): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(63): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01496.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp2 NA18946.hp1 NA18959.hp2 NA18970.hp2 NA18982.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004 a0003c0006 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0003c0006t0001 a0006c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(63): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0002t0001g0117 a0001c0002t0001g0140 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0118 a0001c0002t0003g0111 a0001c0009t0001g0188 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0136 a0002c0003t0001g0141 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0157 a0002c0003t0001g0164 a0002c0003t0001g0173 a0002c0003t0001g0175 a0002c0004t0001g0143 a0002c0004t0001g0153 a0003c0006t0001g0067 a0006c0010t0001g0133	66	118	0.5593	-54	c.122 others(73): Show c.1222-1948_1222-1895delCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4095226	CTCTTCCT others(47): Show CTCTTCCTCAGCTCCCCCACATCTGAGCTCTTCCTCAGCTCCCCCATATC TGAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG03139.hp1 others(1): Show HG01109.hp2 HG02622.hp1 HG03139.hp1 HG03540.hp2	a0001 a0014 a0001 a0014	a0001c0011 a0001c0067 a0001c0087 others(1): Show a0001c0011 a0001c0067 a0001c0087 a0014c0085	a0001c0011t0039 a0001c0067t0068 a0001c0087t0009 others(1): Show a0001c0011t0039 a0001c0067t0068 a0001c0087t0009 a0014c0085t0043	a0001c0011t0039g0061 a0001c0067t0068g0001 a0001c0087t0009g0054 others(1): Show a0001c0011t0039g0061 a0001c0067t0068g0001 a0001c0087t0009g0054 a0014c0085t0043g0010	4	116	0.0345	-54	c.332 others(75): Show c.3325-15383_3325-15330delGTCTTCCTCAGCTCCCCCACATCT GAGCTCTTCCTCAGCTCCCCCATATCTGAG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412024	ATGTATAT others(47): Show ATGTATATATACGTATATATATGTATATACGTATATGTATATATACGTAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02717.hp1 HG02055.hp2 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0048 a0001c0005t0050 a0001c0002t0010 a0001c0005t0048 a0001c0005t0050	a0001c0002t0010g0184 a0001c0005t0048g0146 a0001c0005t0050g0032 a0001c0002t0010g0184 a0001c0005t0048g0146 a0001c0005t0050g0032	3	202	0.0149	-54	c.248 others(73): Show c.2484+2566_2484+2619delCATATATACGTATATATACATATACG TATATACATATATATACGTATATATACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73500718	TCCTCTGT others(47): Show TCCTCTGTCCATCCTCCCTCCATTCTCCTCCATCCTCCATCCATCCTTCC TCTAG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0088 a0003c0088	a0003c0088t0012 a0003c0088t0012	a0003c0088t0012g0174 a0003c0088t0012g0174	1	202	0.0050	-54	c.224 others(71): Show c.224+6666_224+6719delCTAGAGGAAGGATGGATGGAGGATGGAG GAGAATGGAGGGAGGATGGACAGAGG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SEC23A_chr14_39026919_39108235	39094229	TATATATA others(47): Show TATATATATGCATATATACACATATACATATATATGCATATATACACATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 NA18999.hp1 others(1): Show HG01099.hp1 HG01123.hp1 NA18999.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0005t0001g0143 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0005t0001g0143 a0001c0005t0001g0144	4	364	0.0110	-54	c.222 others(70): Show c.222-1039_222-986delGTGTATATGTGTATATATGCATATATATG TATATGTGTATATATGCATATATAT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SENP3_chr17_7556919_7576969	7571858	TATATATA others(47): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 NA18947.hp2 HG02683.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0059 a0001c0001t0002g0001 a0001c0001t0004g0059	2	444	0.0045	-54	c.38 others(63): Show c.383_*436delTATATATATATATATATATATATATATATATATATA TATATATAAAAATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				383	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484694	ATTGTGAT others(47): Show ATTGTGATGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGT GGTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02630.hp1 others(1): Show HG02145.hp2 HG02572.hp1 HG02630.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0048 a0001c0001t0056 others(1): Show a0001c0001t0023 a0001c0001t0048 a0001c0001t0056 a0002c0002t0004	a0001c0001t0023g0012 a0001c0001t0048g0149 a0001c0001t0056g0018 others(1): Show a0001c0001t0023g0012 a0001c0001t0048g0149 a0001c0001t0056g0018 a0002c0002t0004g0014	4	148	0.0270	-54	c.913 others(71): Show c.913+2407_913+2460delGTGGTGGTTGTGATGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGTGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484694	ATTGTGAT others(47): Show ATTGTGATGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGT GGTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02630.hp1 others(1): Show HG02145.hp2 HG02572.hp1 HG02630.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0003	a0001c0001t0005g0084 a0001c0001t0006g0116 a0001c0001t0007g0105 others(1): Show a0001c0001t0005g0084 a0001c0001t0006g0116 a0001c0001t0007g0105 a0002c0002t0003g0085	4	156	0.0256	-54	c.859 others(71): Show c.859+2407_859+2460delGTGGTGGTTGTGATGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGTGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEZ6L_chr22_26164462_26388596	26294879	TTCTTTCT others(47): Show TTCTTTCTTTCTTGCTTGCTTGCTTGCTTCCTGCTTTCTTGCTTCTTTCT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0183 a0002c0005t0004g0183	1	238	0.0042	-54	c.969 others(69): Show c.969+467_969+520delGCTTGCTTGCTTGCTTCCTGCTTTCTTGCT TCTTTCTCTTTCTCTTTCTTTCTT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2761681	AACCGCCC others(47): Show AACCGCCCGGGGACGGCACAGTCTGTCATCCCGTGTTTATTCCCCGCACA GCGCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	394	0.0025	-54	c.637 others(69): Show c.637-213_637-160delCGCGCTGTGCGGGGAATAAACACGGGATGA CAGACTGTGCCGTCCCCGGGCGGT		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2761705	GTCATCCC others(47): Show GTCATCCCGTGTTTATTCCCCGCACAGCGCGACCGCCCGGGGACGGCACA GTCTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02258.hp1 others(9): Show HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03927.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0016 a0001c0006t0004 a0001c0009t0010	a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0003t0003g0019 others(7): Show a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0003t0003g0019 a0001c0003t0003g0022 a0001c0003t0008g0018 a0001c0003t0008g0049 a0001c0003t0016g0052 a0001c0006t0004g0174 a0001c0006t0004g0177 a0001c0009t0010g0170	12	384	0.0313	-54	c.637 others(69): Show c.637-237_637-184delTAGACTGTGCCGTCCCCGGGCGGTCGCGCT GTGCGGGGAATAAACACGGGATGA		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2761835	CACAGCGC others(47): Show CACAGCGCGACCGCCCGGGGACGGCACAGTCTATCATCCCGTGTTTATTC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02572.hp1 others(6): Show HG01109.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0002 a0001c0007t0003 a0001c0007t0014 others(1): Show a0001c0005t0002 a0001c0007t0003 a0001c0007t0014 a0001c0007t0015	a0001c0005t0002g0042 a0001c0005t0002g0075 a0001c0005t0002g0076 others(6): Show a0001c0005t0002g0042 a0001c0005t0002g0075 a0001c0005t0002g0076 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0007t0003g0167 a0001c0007t0014g0041 a0001c0007t0015g0169	9	394	0.0228	-54	c.637 others(69): Show c.637-367_637-314delACGGGGAATAAACACGGGATGATAGACTGT GCCGTCCCCGGGCGGTCGCGCTGT		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2761880	TATTCCCC others(47): Show TATTCCCCGTACAGCGCGACCGCCCGGGGACGGCACAGTCTATCATCCCG TGTTG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp1 NA18990.hp2 NA18953.hp1 NA18957.hp1 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0028 a0001c0004t0003g0048 a0001c0004t0003g0132 a0001c0004t0003g0028 a0001c0004t0003g0048 a0001c0004t0003g0132	3	394	0.0076	-54	c.637 others(69): Show c.637-412_637-359delCAACACGGGATGATAGACTGTGCCGTCCCC GGGCGGTCGCGCTGTACGGGGAAT		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11						chr19	TogoVar
SH2D3A_chr19_6747160_6772435	6769771	CTGGGAGG others(47): Show CTGGGAGGCAGAGGTTGCTGTGGGCAGAGATTGCACCATTGCACTCTAGC CTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	378	0.0026	-54	c.-25 others(65): Show c.-2507_-2454delCCCAGGCTAGAGTGCAATGGTGCAATCTCTGCCC ACAGCAACCTCTGCCTCCCA		SH2D3A	ENSG00000125731.13	transcript	ENST00000245908.11	protein_coding					2337		chr19	TogoVar

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