Joint Open Genome and Omics Platform (JoGo)

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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
SPRR2F_chr1_153107121_153118516	153114016	TTTTTTTG TTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp2 others(78): Show HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03486.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19089.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0004c0004t0001	a0001c0001t0001g0006 a0002c0002t0001g0002 a0002c0002t0006g0011 others(1): Show a0001c0001t0001g0006 a0002c0002t0001g0002 a0002c0002t0006g0011 a0004c0004t0001g0005	81	434	0.1866	-7	c.-56 others(16): Show c.-569_-563delCAAAAAA	SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding		501		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155608369	AAGGCGTC AAGGCGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(200): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(125): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0134 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0002t0030 a0001c0002t0032 a0001c0002t0033 a0001c0002t0054 a0001c0002t0056 a0001c0002t0074 a0001c0002t0076 a0001c0002t0085 a0001c0002t0099 a0001c0002t0100 a0001c0002t0121 a0001c0002t0122 a0001c0002t0123 a0001c0002t0128 a0001c0002t0135 a0001c0002t0136 a0001c0002t0137 a0001c0004t0008 a0002c0003t0030 a0002c0003t0115 a0003c0005t0048	a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0047 others(200): Show a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0223 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0125 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0003g0015 a0001c0001t0003g0105 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0004g0065 a0001c0001t0004g0101 a0001c0001t0004g0149 a0001c0001t0004g0168 a0001c0001t0004g0176 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0005g0139 a0001c0001t0005g0151 a0001c0001t0005g0155 a0001c0001t0005g0186 a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0040 a0001c0001t0006g0052 a0001c0001t0006g0129 a0001c0001t0007g0086 a0001c0001t0007g0088 a0001c0001t0007g0098 a0001c0001t0007g0113 a0001c0001t0008g0004 a0001c0001t0008g0006 a0001c0001t0008g0143 a0001c0001t0009g0147 a0001c0001t0009g0180 a0001c0001t0009g0191 a0001c0001t0009g0206 a0001c0001t0010g0085 a0001c0001t0010g0133 a0001c0001t0010g0152 a0001c0001t0011g0126 a0001c0001t0011g0154 a0001c0001t0011g0157 a0001c0001t0011g0213 a0001c0001t0012g0003 a0001c0001t0012g0087 a0001c0001t0012g0174 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0014g0172 a0001c0001t0014g0177 a0001c0001t0014g0179 a0001c0001t0015g0123 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0016g0095 a0001c0001t0017g0197 a0001c0001t0017g0200 a0001c0001t0018g0106 a0001c0001t0018g0140 a0001c0001t0019g0201 a0001c0001t0019g0208 a0001c0001t0020g0031 a0001c0001t0020g0032 a0001c0001t0021g0069 a0001c0001t0021g0120 a0001c0001t0022g0107 a0001c0001t0022g0110 a0001c0001t0025g0182 a0001c0001t0025g0185 a0001c0001t0026g0049 a0001c0001t0026g0081 a0001c0001t0027g0090 a0001c0001t0027g0134 a0001c0001t0028g0053 a0001c0001t0028g0225 a0001c0001t0029g0178 a0001c0001t0029g0188 a0001c0001t0031g0038 a0001c0001t0031g0215 a0001c0001t0034g0010 a0001c0001t0034g0025 a0001c0001t0035g0027 a0001c0001t0035g0033 a0001c0001t0036g0122 a0001c0001t0036g0210 a0001c0001t0037g0192 a0001c0001t0037g0211 a0001c0001t0038g0162 a0001c0001t0038g0198 a0001c0001t0039g0097 a0001c0001t0040g0096 a0001c0001t0042g0092 a0001c0001t0043g0111 a0001c0001t0045g0114 a0001c0001t0049g0041 a0001c0001t0050g0173 a0001c0001t0051g0082 a0001c0001t0052g0183 a0001c0001t0057g0021 a0001c0001t0058g0171 a0001c0001t0059g0175 a0001c0001t0060g0150 a0001c0001t0061g0135 a0001c0001t0062g0190 a0001c0001t0064g0067 a0001c0001t0066g0124 a0001c0001t0067g0093 a0001c0001t0068g0119 a0001c0001t0069g0104 a0001c0001t0070g0030 a0001c0001t0072g0036 a0001c0001t0075g0116 a0001c0001t0078g0089 a0001c0001t0080g0028 a0001c0001t0081g0112 a0001c0001t0082g0103 a0001c0001t0083g0109 a0001c0001t0084g0220 a0001c0001t0086g0045 a0001c0001t0087g0046 a0001c0001t0088g0204 a0001c0001t0089g0196 a0001c0001t0091g0217 a0001c0001t0092g0016 a0001c0001t0094g0115 a0001c0001t0096g0029 a0001c0001t0097g0214 a0001c0001t0098g0094 a0001c0001t0101g0130 a0001c0001t0102g0165 a0001c0001t0103g0051 a0001c0001t0104g0153 a0001c0001t0105g0017 a0001c0001t0106g0226 a0001c0001t0107g0063 a0001c0001t0108g0141 a0001c0001t0109g0118 a0001c0001t0110g0023 a0001c0001t0111g0158 a0001c0001t0112g0099 a0001c0001t0113g0170 a0001c0001t0114g0062 a0001c0001t0116g0216 a0001c0001t0117g0169 a0001c0001t0119g0102 a0001c0001t0120g0009 a0001c0001t0124g0146 a0001c0001t0125g0142 a0001c0001t0126g0138 a0001c0001t0127g0187 a0001c0001t0129g0199 a0001c0001t0130g0203 a0001c0001t0131g0167 a0001c0001t0133g0127 a0001c0001t0134g0064 a0001c0001t0139g0229 a0001c0001t0140g0209 a0001c0001t0141g0194 a0001c0001t0142g0212 a0001c0001t0143g0193 a0001c0001t0144g0159 a0001c0001t0145g0163 a0001c0001t0146g0230 a0001c0002t0030g0205 a0001c0002t0032g0068 a0001c0002t0032g0070 a0001c0002t0033g0108 a0001c0002t0054g0117 a0001c0002t0056g0166 a0001c0002t0074g0007 a0001c0002t0076g0132 a0001c0002t0085g0019 a0001c0002t0099g0037 a0001c0002t0100g0022 a0001c0002t0121g0148 a0001c0002t0122g0221 a0001c0002t0123g0024 a0001c0002t0128g0012 a0001c0002t0135g0018 a0001c0002t0136g0224 a0001c0002t0137g0131 a0001c0004t0008g0100 a0002c0003t0030g0144 a0002c0003t0115g0156 a0003c0005t0048g0219	203	229	0.8865	-7	c.-45 others(18): Show c.-4559_-4553delAGGCGTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding		4216		chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767914	GTTTTGTT GTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01106.hp1 others(11): Show HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp1 HG02004.hp2 HG02293.hp1 HG03017.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18988.hp1 NA18990.hp1 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0059	a0001c0001t0001g0223 a0001c0001t0006g0020 a0001c0001t0006g0034 others(11): Show a0001c0001t0001g0223 a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0040 a0001c0001t0006g0052 a0001c0001t0006g0129 a0001c0001t0010g0085 a0001c0001t0010g0152 a0001c0001t0031g0038 a0001c0001t0034g0010 a0001c0001t0035g0027 a0001c0001t0035g0033 a0001c0001t0059g0175	14	229	0.0611	-7	c.-28 others(22): Show c.-281-45_-281-39delTTGTTTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142320530	ACTTTGGG ACTTTGGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02809.hp2 HG02886.hp1 others(13): Show HG02056.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03471.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18966.hp2 NA18975.hp1 NA18986.hp2 NA19000.hp1 NA19074.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 others(3): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0001t0036 a0001c0001t0061 a0001c0001t0084	a0001c0001t0010g0021 a0001c0001t0010g0022 a0001c0001t0010g0054 others(9): Show a0001c0001t0010g0021 a0001c0001t0010g0022 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0110 a0001c0001t0010g0111 a0001c0001t0012g0057 a0001c0001t0027g0031 a0001c0001t0027g0119 a0001c0001t0036g0036 a0001c0001t0061g0130 a0001c0001t0084g0056	16	376	0.0426	-7	c.-48 others(24): Show c.-48+4307_-48+4313delCCCAAAG	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	1/1			chr5	TogoVar
SPSB1_chr1_9287894_9374532	9292724	ACGCGCCC ACGCGCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp1 others(72): Show HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA19081.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0016 a0001c0003t0018 a0002c0007t0005	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(71): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0003g0012 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0006g0120 a0001c0001t0006g0163 a0001c0001t0006g0168 a0001c0001t0007g0166 a0001c0001t0008g0326 a0001c0001t0011g0153 a0001c0001t0012g0039 a0001c0001t0012g0041 a0001c0001t0015g0014 a0001c0001t0015g0025 a0001c0001t0017g0030 a0001c0001t0022g0042 a0001c0001t0023g0040 a0001c0001t0027g0165 a0001c0001t0029g0035 a0001c0001t0034g0140 a0001c0001t0037g0029 a0001c0001t0038g0200 a0001c0002t0001g0016 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0005g0028 a0001c0002t0007g0008 a0001c0002t0007g0013 a0001c0002t0007g0023 a0001c0002t0007g0026 a0001c0002t0007g0037 a0001c0002t0007g0164 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0179 a0001c0002t0007g0190 a0001c0002t0019g0015 a0001c0002t0019g0143 a0001c0003t0003g0001 a0001c0003t0003g0006 a0001c0003t0003g0009 a0001c0003t0003g0051 a0001c0003t0003g0184 a0001c0003t0007g0005 a0001c0003t0012g0007 a0001c0003t0012g0020 a0001c0003t0012g0021 a0001c0003t0016g0146 a0001c0003t0018g0017 a0002c0007t0005g0036	75	351	0.2137	-7	c.-49 others(16): Show c.-496_-490delCGCGCCC	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding		169		chr1	TogoVar
SPSB4_chr3_141046347_141153611	141075892	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02717.hp1 others(3): Show HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0001t0031 a0001c0001t0037	a0001c0001t0006g0017 a0001c0001t0009g0155 a0001c0001t0018g0001 others(2): Show a0001c0001t0006g0017 a0001c0001t0009g0155 a0001c0001t0018g0001 a0001c0001t0031g0244 a0001c0001t0037g0025	6	116	0.0517	-7	c.694 others(24): Show c.694+9110_694+9116delAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01167.hp2 others(17): Show HG00099.hp1 HG00597.hp2 HG01167.hp2 HG02040.hp1 HG02055.hp1 HG02451.hp2 HG02486.hp2 HG02723.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18947.hp2 NA18955.hp1 NA18955.hp2 NA19001.hp1 NA19007.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0022 a0001c0024 a0001c0028	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0018t0004 a0001c0022t0001 a0001c0024t0001 a0001c0028t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(17): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0002t0001g0174 a0001c0002t0001g0183 a0001c0002t0001g0192 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0223 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0266 a0001c0006t0001g0290 a0001c0018t0004g0193 a0001c0022t0001g0260 a0001c0024t0001g0196 a0001c0028t0001g0160	20	221	0.0905	-7	c.363 others(24): Show c.363+1451_363+1457delTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128606374	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02615.hp2 others(4): Show HG01884.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0020 a0001c0007 a0005c0020	a0001c0007t0001 a0005c0020t0001 a0001c0007t0001 a0005c0020t0001	a0001c0007t0001g0002 a0001c0007t0001g0009 a0001c0007t0001g0010 others(3): Show a0001c0007t0001g0002 a0001c0007t0001g0009 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0007t0001g0047 a0005c0020t0001g0008	7	23	0.3043	-7	c.404 others(24): Show c.4046+909_4046+915delAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	31/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54456930	GAGCGGAC GAGCGGAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02027.hp1 others(37): Show HG00408.hp2 HG00423.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03654.hp2 HG04228.hp1 NA18612.hp2 NA18950.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA19012.hp1 NA19058.hp2 NA19066.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0001c0018 a0001c0020 a0002c0006 a0008c0028	a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 others(19): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0048 a0001c0003t0003 a0001c0003t0004 a0001c0004t0035 a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 a0001c0005t0043 a0001c0007t0013 a0001c0008t0005 a0001c0012t0016 a0001c0014t0001 a0001c0014t0037 a0001c0018t0042 a0001c0020t0002 a0002c0006t0003 a0008c0028t0001	a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0015 others(37): Show a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0007g0018 a0001c0001t0019g0031 a0001c0001t0020g0021 a0001c0001t0020g0023 a0001c0001t0020g0032 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0048g0025 a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0004g0024 a0001c0004t0035g0042 a0001c0005t0008g0041 a0001c0005t0011g0038 a0001c0005t0021g0040 a0001c0005t0043g0039 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045 a0001c0012t0016g0026 a0001c0014t0001g0014 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0018t0042g0027 a0001c0020t0002g0034 a0002c0006t0003g0013 a0002c0006t0003g0016 a0008c0028t0001g0006	40	336	0.1190	-7	c.-48 others(22): Show c.-48+423_-48+429delGGACAGC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54597866	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03225.hp2 others(3): Show HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0034 a0001c0005t0003 a0001c0005t0034	a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0183 others(3): Show a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0190 a0001c0005t0034g0003	6	135	0.0444	-7	c.149 others(24): Show c.149-1209_149-1203delTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40484946	ACAAAAAC ACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01169.hp1 others(78): Show HG00099.hp2 HG01074.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG01884.hp1 HG01891.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp2 NA18970.hp2 NA18979.hp2 NA18983.hp1 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0018 a0023	a0001c0001 a0001c0002 a0001c0008 others(24): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0012 a0001c0041 a0001c0048 a0001c0054 a0002c0003 a0002c0004 a0002c0015 a0002c0021 a0002c0034 a0003c0005 a0003c0006 a0004c0007 a0004c0011 a0004c0014 a0004c0016 a0004c0025 a0005c0009 a0007c0043 a0007c0044 a0008c0013 a0014c0031 a0018c0051 a0023c0028	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(29): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0008t0001 a0001c0010t0001 a0001c0010t0008 a0001c0012t0001 a0001c0041t0001 a0001c0048t0002 a0001c0054t0001 a0002c0003t0001 a0002c0004t0001 a0002c0015t0001 a0002c0021t0001 a0002c0034t0001 a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 a0003c0006t0004 a0004c0007t0001 a0004c0011t0001 a0004c0014t0001 a0004c0016t0001 a0004c0025t0001 a0005c0009t0001 a0007c0043t0001 a0007c0044t0001 a0008c0013t0001 a0014c0031t0001 a0018c0051t0001 a0023c0028t0001	a0001c0001t0001g0065 a0001c0001t0001g0159 a0001c0001t0001g0160 others(78): Show a0001c0001t0001g0065 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0227 a0001c0002t0001g0022 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0165 a0001c0002t0001g0178 a0001c0002t0001g0194 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0002g0183 a0001c0002t0002g0196 a0001c0002t0005g0193 a0001c0008t0001g0044 a0001c0008t0001g0060 a0001c0008t0001g0061 a0001c0008t0001g0062 a0001c0008t0001g0073 a0001c0008t0001g0154 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0008t0001g0166 a0001c0010t0001g0091 a0001c0010t0001g0149 a0001c0010t0001g0223 a0001c0010t0008g0080 a0001c0012t0001g0068 a0001c0012t0001g0126 a0001c0041t0001g0024 a0001c0048t0002g0206 a0001c0054t0001g0087 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0222 a0002c0003t0001g0232 a0002c0004t0001g0200 a0002c0004t0001g0226 a0002c0015t0001g0179 a0002c0021t0001g0220 a0002c0034t0001g0157 a0003c0005t0001g0059 a0003c0005t0002g0207 a0003c0006t0001g0081 a0003c0006t0001g0212 a0003c0006t0001g0213 a0003c0006t0001g0215 a0003c0006t0001g0216 a0003c0006t0001g0217 a0003c0006t0001g0229 a0003c0006t0004g0076 a0004c0007t0001g0173 a0004c0007t0001g0191 a0004c0011t0001g0136 a0004c0011t0001g0137 a0004c0011t0001g0141 a0004c0011t0001g0171 a0004c0014t0001g0055 a0004c0014t0001g0058 a0004c0014t0001g0146 a0004c0016t0001g0177 a0004c0025t0001g0056 a0005c0009t0001g0001 a0005c0009t0001g0007 a0005c0009t0001g0144 a0005c0009t0001g0148 a0005c0009t0001g0175 a0007c0043t0001g0130 a0007c0044t0001g0167 a0008c0013t0001g0142 a0008c0013t0001g0145 a0008c0013t0001g0147 a0014c0031t0001g0057 a0018c0051t0001g0221 a0023c0028t0001g0174	81	232	0.3491	-7	c.170 others(24): Show c.170-2744_170-2738delCCAAAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64797467	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(26): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG02145.hp1 HG02155.hp1 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18951.hp2 NA18983.hp1 NA18986.hp2 NA19010.hp2 NA19043.hp2 NA19080.hp1 NA20905.hp1	a0002 a0003 a0008 others(5): Show a0002 a0003 a0008 a0013 a0024 a0026 a0029 a0030	a0002c0003 a0002c0005 a0002c0006 others(14): Show a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0013 a0002c0026 a0002c0032 a0002c0033 a0002c0043 a0002c0053 a0003c0038 a0008c0011 a0013c0049 a0024c0046 a0026c0041 a0029c0034 a0030c0044	a0002c0003t0001 a0002c0003t0013 a0002c0003t0034 others(20): Show a0002c0003t0001 a0002c0003t0013 a0002c0003t0034 a0002c0005t0004 a0002c0005t0009 a0002c0006t0008 a0002c0006t0012 a0002c0007t0001 a0002c0007t0003 a0002c0013t0001 a0002c0013t0005 a0002c0026t0018 a0002c0032t0001 a0002c0033t0001 a0002c0043t0003 a0002c0053t0001 a0003c0038t0001 a0008c0011t0002 a0013c0049t0003 a0024c0046t0016 a0026c0041t0005 a0029c0034t0002 a0030c0044t0001	a0002c0003t0001g0263 a0002c0003t0013g0160 a0002c0003t0034g0060 others(26): Show a0002c0003t0001g0263 a0002c0003t0013g0160 a0002c0003t0034g0060 a0002c0005t0004g0154 a0002c0005t0009g0108 a0002c0006t0008g0052 a0002c0006t0012g0026 a0002c0006t0012g0032 a0002c0007t0001g0085 a0002c0007t0003g0221 a0002c0007t0003g0231 a0002c0013t0001g0059 a0002c0013t0001g0230 a0002c0013t0005g0137 a0002c0013t0005g0142 a0002c0026t0018g0066 a0002c0026t0018g0067 a0002c0032t0001g0020 a0002c0033t0001g0021 a0002c0043t0003g0028 a0002c0053t0001g0061 a0003c0038t0001g0022 a0008c0011t0002g0054 a0008c0011t0002g0058 a0013c0049t0003g0134 a0024c0046t0016g0178 a0026c0041t0005g0155 a0029c0034t0002g0240 a0030c0044t0001g0256	29	98	0.2959	-7	c.118 others(24): Show c.1182+255_1182+261delTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	10/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64830370	ATTATTAT ATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG03195.hp2 others(1): Show HG01891.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0005 a0002c0003t0008 a0002c0003t0027 others(1): Show a0002c0003t0005 a0002c0003t0008 a0002c0003t0027 a0002c0005t0037	a0002c0003t0005g0110 a0002c0003t0008g0104 a0002c0003t0027g0019 others(1): Show a0002c0003t0005g0110 a0002c0003t0008g0104 a0002c0003t0027g0019 a0002c0005t0037g0107	4	266	0.0150	-7	c.-51 others(24): Show c.-51-7232_-51-7226delATAATAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92045524	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG01517.hp2 others(4): Show HG01074.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG03471.hp1 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0020 a0001c0001t0003g0263 a0001c0001t0003g0264 others(3): Show a0001c0001t0003g0020 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0013g0268	7	141	0.0496	-7	c.113 others(24): Show c.1136+468_1136+474delTTTTTTT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	12/14			chr9	TogoVar
SPTLC1_chr9_92026147_92120413	92065789	CACATTAG CACATTAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02970.hp1 HG02723.hp1 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260	3	356	0.0084	-7	c.560 others(24): Show c.560+2170_560+2176delCTAATGT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	6/14			chr9	TogoVar
SPTLC1_chr9_92026147_92120413	92101578	AAAAAGAG AAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01255.hp1 others(33): Show HG00733.hp2 HG01109.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG02135.hp1 HG02145.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18950.hp1 NA18988.hp1 NA18999.hp1 NA19001.hp2 NA19011.hp2 NA19065.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0031 others(30): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0253 a0001c0001t0009g0042 a0001c0001t0010g0045 a0001c0002t0002g0039	36	356	0.1011	-7	c.260 others(24): Show c.260+7155_260+7161delCTCTTTT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	3/14			chr9	TogoVar
SPTLC3_chr20_13003972_13174103	13159886	TAAAAAAG TAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02622.hp2 NA19240.hp1 HG01167.hp2 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0211 a0001c0001t0004g0238 a0001c0001t0019g0160 a0001c0001t0001g0211 a0001c0001t0004g0238 a0001c0001t0019g0160	3	290	0.0103	-7	c.141 others(22): Show c.1416-96_1416-90delGAAAAAA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443353	TGAGTGTG TGAGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0142 a0001c0001t0011g0028 a0001c0001t0011g0274 others(1): Show a0001c0001t0006g0142 a0001c0001t0011g0028 a0001c0001t0011g0274 a0001c0001t0011g0275	4	332	0.0120	-7	c.113 others(24): Show c.113-8056_113-8050delCACACTC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443510	TGTGTGTG TGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(49): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01928.hp2 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA19078.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(46): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0186 a0001c0001t0002g0250 a0001c0001t0010g0051 a0001c0001t0010g0069 a0001c0001t0010g0078 a0001c0001t0013g0070 a0001c0001t0013g0081	52	328	0.1585	-7	c.113 others(24): Show c.113-8213_113-8207delCACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	CAGAAAAG CAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG03195.hp2 others(1): Show HG00735.hp1 HG02145.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0113 others(1): Show a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0027g0116	4	74	0.0541	-7	c.61- others(22): Show c.61-4341_61-4335delCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02071.hp2 HG02109.hp1 others(29): Show HG01243.hp2 HG02071.hp2 HG02109.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0020	a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0004 a0001c0006t0009 a0001c0009t0004 a0001c0020t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0133 others(25): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0017g0075 a0001c0002t0001g0095 a0001c0002t0001g0174 a0001c0002t0001g0218 a0001c0003t0001g0025 a0001c0003t0001g0112 a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0002g0050 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0088 a0001c0004t0001g0141 a0001c0004t0001g0213 a0001c0006t0004g0045 a0001c0006t0004g0091 a0001c0006t0009g0037 a0001c0009t0004g0074 a0001c0009t0004g0089 a0001c0009t0004g0090 a0001c0009t0004g0092 a0001c0020t0001g0043	32	98	0.3265	-7	c.302 others(22): Show c.302-384_302-378delAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179842699	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG01943.hp1 others(6): Show HG01074.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG02257.hp1 HG03486.hp1 NA18948.hp1 NA18960.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0164 a0001c0001t0001g0200 a0001c0001t0011g0040 a0001c0002t0001g0046 a0001c0003t0001g0119	9	47	0.1915	-7	c.61 others(18): Show c.6107_*6113delAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4622		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA CAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01074.hp1 others(26): Show HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01168.hp1 HG01243.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0010 a0003c0003 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 a0002c0008t0001 a0002c0010t0001 a0003c0003t0001 a0011c0011t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0174 others(26): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0249 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0136 a0002c0002t0001g0178 a0002c0002t0005g0022 a0002c0008t0001g0123 a0002c0010t0001g0177 a0003c0003t0001g0066 a0011c0011t0001g0117	29	191	0.1518	-7	c.205 others(26): Show c.2050-1619_2050-1613delTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45556448	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp1 others(41): Show HG00140.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01952.hp1 HG02080.hp1 HG02145.hp2 HG02451.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18941.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18984.hp1 NA18998.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19082.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0001c0005 a0002c0004 others(2): Show a0001c0001 a0001c0005 a0002c0004 a0010c0009 a0012c0012	a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 a0010c0009t0001 a0012c0012t0001	a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0001g0138 others(41): Show a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0115 a0010c0009t0001g0108 a0012c0012t0001g0160	44	127	0.3465	-7	c.141 others(26): Show c.1410-2725_1410-2719delAAAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	10/20			chr2	TogoVar
SREBF1_chr17_17806334_17841986	17833447	AAAAATAT AAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp2 others(7): Show HG01891.hp1 HG02109.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02809.hp2 HG03139.hp2 HG03209.hp1 NA18522.hp2 NA19240.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0002 a0005c0008 a0015c0021 a0001c0002 a0005c0008 a0015c0021	a0001c0002t0003 a0001c0002t0020 a0005c0008t0003 others(1): Show a0001c0002t0003 a0001c0002t0020 a0005c0008t0003 a0015c0021t0003	a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0139 others(3): Show a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0139 a0001c0002t0020g0026 a0005c0008t0003g0025 a0015c0021t0003g0140	10	339	0.0295	-7	c.91+ others(22): Show c.91+3273_91+3279delATATTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SRGAP1_chr12_63839700_64167217	63868072	TTTTTTTG TTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02572.hp2 HG02895.hp1 others(2): Show HG01361.hp1 HG02572.hp2 HG02895.hp1 HG03209.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0005 a0001c0002 a0001c0003 a0003c0005	a0001c0002t0058 a0001c0003t0089 a0001c0003t0099 others(2): Show a0001c0002t0058 a0001c0003t0089 a0001c0003t0099 a0003c0005t0135 a0003c0005t0137	a0001c0002t0058g0015 a0001c0003t0089g0008 a0001c0003t0099g0017 others(2): Show a0001c0002t0058g0015 a0001c0003t0089g0008 a0001c0003t0099g0017 a0003c0005t0135g0013 a0003c0005t0137g0047	5	168	0.0298	-7	c.67+ others(24): Show c.67+23196_67+23202delGTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63966539	CAGCTGTT CAGCTGTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 NA19240.hp1 HG03139.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0071 a0001c0003t0089 a0001c0011t0015 a0001c0001t0071 a0001c0003t0089 a0001c0011t0015	a0001c0001t0071g0011 a0001c0003t0089g0008 a0001c0011t0015g0083 a0001c0001t0071g0011 a0001c0003t0089g0008 a0001c0011t0015g0083	3	168	0.0179	-7	c.68- others(24): Show c.68-17403_68-17397delGTTAGCT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	CAAAAAAA CAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02572.hp2 HG02647.hp2 others(7): Show HG01361.hp1 HG02572.hp2 HG02647.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011	a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 others(6): Show a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0002t0005 a0001c0002t0057 a0001c0002t0058 a0001c0003t0099 a0001c0006t0149 a0001c0011t0015	a0001c0001t0140g0012 a0001c0001t0141g0002 a0001c0001t0142g0007 others(7): Show a0001c0001t0140g0012 a0001c0001t0141g0002 a0001c0001t0142g0007 a0001c0002t0005g0090 a0001c0002t0005g0158 a0001c0002t0057g0040 a0001c0002t0058g0015 a0001c0003t0099g0017 a0001c0006t0149g0167 a0001c0011t0015g0083	10	74	0.1351	-7	c.82 others(18): Show c.8282_*8288delAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8282	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	145030720	AAATATAT AAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02071.hp2 HG02129.hp2 others(1): Show HG01346.hp2 HG02071.hp2 HG02129.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0002c0002t0011	a0001c0001t0002g0017 a0001c0001t0003g0016 a0001c0001t0013g0025 others(1): Show a0001c0001t0002g0017 a0001c0001t0003g0016 a0001c0001t0013g0025 a0002c0002t0011g0028	4	51	0.0784	-7	c.68- others(24): Show c.68-35527_68-35521delATATATT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145030722	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03831.hp1 HG00280.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0002 a0001c0001t0001g0032 a0001c0001t0002g0002	2	52	0.0385	-7	c.68- others(24): Show c.68-35529_68-35523delATATATA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02602.hp1 HG03490.hp1 HG03492.hp2 NA18946.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0004 a0009c0009 a0001c0001 a0008c0004 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0008c0004t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0008c0004t0005 a0009c0009t0003	a0001c0001t0001g0033 a0001c0001t0002g0035 a0008c0004t0005g0012 others(1): Show a0001c0001t0001g0033 a0001c0001t0002g0035 a0008c0004t0005g0012 a0009c0009t0003g0014	4	9	0.4444	-7	c.67+ others(24): Show c.67+48178_67+48184delTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249580	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01175.hp2 others(3): Show HG00280.hp2 HG00323.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0044 a0001c0001t0046	a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0274 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0274 a0001c0001t0013g0162 a0001c0001t0044g0125 a0001c0001t0046g0127	6	249	0.0241	-7	c.68- others(24): Show c.68-35211_68-35205delTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121259843	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp2 HG01943.hp2 others(2): Show HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184	5	214	0.0234	-7	c.68- others(24): Show c.68-24942_68-24936delTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354257	CTCTCCTT CTCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00609.hp2 others(31): Show HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00733.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp1 HG02015.hp2 HG02300.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG03195.hp1 HG03453.hp1 HG04184.hp2 NA18612.hp1 NA18940.hp1 NA18962.hp1 NA18962.hp2 NA18981.hp2 NA18999.hp1 NA19003.hp1 NA19030.hp1 NA19077.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0038 a0001c0001t0044 a0001c0001t0050	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 others(31): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0007g0193 a0001c0001t0008g0249 a0001c0001t0011g0241 a0001c0001t0014g0220 a0001c0001t0016g0109 a0001c0001t0038g0221 a0001c0001t0044g0125 a0001c0001t0050g0189	34	180	0.1889	-7	c.424 others(26): Show c.424-11032_424-11026delCCTTTCT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206204358	TCGCTTCC TCGCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 HG02300.hp1 HG01192.hp2 HG01934.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0004g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0004g0070	3	180	0.0167	-7	c.-54 others(24): Show c.-543+720_-543+726delTCCCGCT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206353798	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02895.hp1 others(2): Show HG02055.hp1 HG02622.hp1 HG02895.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0010 a0001c0003t0021 a0001c0003t0005 a0001c0003t0010 a0001c0003t0021	a0001c0003t0005g0164 a0001c0003t0010g0158 a0001c0003t0010g0159 others(2): Show a0001c0003t0005g0164 a0001c0003t0010g0158 a0001c0003t0010g0159 a0001c0003t0010g0160 a0001c0003t0021g0129	5	134	0.0373	-7	c.423 others(26): Show c.423+10803_423+10809delTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9006954	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG06807.hp2 others(2): Show HG02622.hp1 HG03098.hp2 HG06807.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0017 a0001c0001 a0001c0003 a0001c0017	a0001c0001t0004 a0001c0001t0023 a0001c0003t0007 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0003t0007 a0001c0017t0014	a0001c0001t0004g0120 a0001c0001t0004g0128 a0001c0001t0023g0134 others(2): Show a0001c0001t0004g0120 a0001c0001t0004g0128 a0001c0001t0023g0134 a0001c0003t0007g0212 a0001c0017t0014g0219	5	162	0.0309	-7	c.222 others(26): Show c.2227+3347_2227+3353delAAAAAAA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9172086	TTCTTTTC TTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01070.hp2 others(15): Show HG00423.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01169.hp2 HG01192.hp1 HG01258.hp2 HG01516.hp1 HG02451.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03516.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA19043.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0013 others(1): Show a0001c0001 a0001c0006 a0001c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0049 a0001c0006t0002 a0001c0013t0001 a0005c0015t0001	a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0106 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0130 a0001c0001t0008g0054 a0001c0001t0013g0112 a0001c0001t0013g0211 a0001c0001t0023g0071 a0001c0001t0023g0134 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0032g0055 a0001c0001t0049g0084 a0001c0006t0002g0029 a0001c0013t0001g0057 a0005c0015t0001g0193	18	222	0.0811	-7	c.68- others(24): Show c.68-47176_68-47170delGAAAAGA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRL_chr16_4184374_4247080	4199364	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02145.hp2 HG02809.hp2 others(3): Show HG01361.hp2 HG02145.hp2 HG02809.hp2 HG02965.hp2 NA19084.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0038 others(3): Show a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0038 a0001c0001t0006g0008 a0001c0001t0006g0054 a0001c0001t0028g0183	6	44	0.1364	-7	c.260 others(24): Show c.260-1456_260-1450delAAAAAAA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	3/5			chr16	TogoVar
SRP54_chr14_34977992_35034567	34998996	TGTGTGTG TGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03098.hp2 HG04184.hp2 HG01361.hp1 HG03098.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0359 a0001c0001t0002g0379 a0001c0001t0002g0335 a0001c0001t0002g0359 a0001c0001t0002g0379	3	335	0.0090	-7	c.79- others(20): Show c.79-561_79-555delGTGTGTG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15			chr14	TogoVar
SRP68_chr17_76033785_76077517	76062557	CATTATAT CATTATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 NA19043.hp2 others(1): Show HG01891.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0002 a0001c0002t0001 a0004c0009t0003 a0001c0001t0002 a0001c0002t0001 a0004c0009t0003	a0001c0001t0002g0160 a0001c0002t0001g0250 a0004c0009t0003g0019 a0001c0001t0002g0160 a0001c0002t0001g0250 a0004c0009t0003g0019	4	363	0.0110	-7	c.562 others(22): Show c.562-990_562-984delATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062662	TAATATAC TAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 NA21309.hp2 HG02280.hp2 HG02486.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0300 a0006c0007t0001g0008 a0001c0001t0001g0300 a0006c0007t0001g0008	3	363	0.0083	-7	c.562 others(24): Show c.562-1095_562-1089delGTATATT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56470187	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(54): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02080.hp2 HG02523.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0003t0002 a0001c0013t0002 a0001c0001t0002 a0001c0003t0002 a0001c0013t0002	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0003t0002g0004 others(38): Show a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0003t0002g0004 a0001c0003t0002g0007 a0001c0003t0002g0017 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0013t0002g0017	57	386	0.1477	-7	c.230 others(22): Show c.230+419_230+425delTATTATA	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG01952.hp2 others(21): Show HG00558.hp2 HG01952.hp1 HG01952.hp2 HG02145.hp2 HG02572.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18941.hp2 NA18963.hp1 NA18963.hp2 NA18977.hp1 NA18981.hp1 NA19001.hp1 NA19006.hp2 NA19012.hp1 NA19068.hp1 NA19077.hp2 NA19078.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0200 others(16): Show a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0009 a0001c0001t0002g0047 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0006g0009 a0001c0001t0006g0149	24	46	0.5217	-7	c.141 others(22): Show c.141+890_141+896delTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK2_chr7_105111374_105393921	105285385	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(74): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 a0001c0001t0001g0251 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0008g0073 a0001c0001t0010g0086 a0001c0004t0001g0217 a0002c0003t0001g0031	77	177	0.4350	-7	c.72- others(24): Show c.72-81607_72-81601delTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105305406	ACACAGTC ACACAGTC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(73): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0008g0073 a0001c0001t0010g0086 a0001c0004t0001g0217 a0002c0003t0001g0031	76	280	0.2714	-7	c.71+ others(24): Show c.71+83235_71+83241delGACTGTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105305407	CACAGTCT CACAGTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03017.hp2 others(10): Show HG02055.hp2 HG02965.hp1 HG03017.hp2 HG03225.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 others(10): Show a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0113	13	280	0.0464	-7	c.71+ others(24): Show c.71+83234_71+83240delAGACTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105380521	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01928.hp1 others(8): Show HG00423.hp1 HG00639.hp2 HG01928.hp1 HG01952.hp2 HG02080.hp1 HG02273.hp1 HG03710.hp1 NA18612.hp2 NA18954.hp2 NA19010.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 others(8): Show a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0004t0001g0217	11	86	0.1279	-7	c.71+ others(22): Show c.71+8120_71+8126delAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105385171	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA18955.hp1 others(5): Show HG03017.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 others(5): Show a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0113	8	127	0.0630	-7	c.71+ others(22): Show c.71+3470_71+3476delAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105393459	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02055.hp2 HG02965.hp1 others(10): Show HG01074.hp2 HG02055.hp2 HG02965.hp1 HG03017.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0005g0116 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0005g0116 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0113	13	177	0.0734	-7	c.-46 others(18): Show c.-4660_-4654delAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		4539		chr7	TogoVar

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