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
SCN11A_chr3_38840764_39056944	38963378	TATATATA others(8): Show TATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19055.hp1 NA19003.hp2 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0179 a0001c0002t0004g0050 a0001c0002t0001g0179 a0001c0002t0004g0050	2	306	0.0065	-15	c.-27 others(34): Show c.-279-2970_-279-2956delCTCCATCATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCN1A_chr2_165980813_166133020	166039910	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(123): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0003c0007 a0007c0020 a0009c0009 a0010c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0040 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0003t0016 a0001c0003t0022 a0001c0003t0058 a0001c0005t0030 a0001c0005t0059 a0001c0006t0001 a0001c0010t0032 a0001c0011t0006 a0003c0007t0031 a0007c0020t0001 a0009c0009t0032 a0010c0025t0004	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0027 others(122): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0347 a0001c0001t0002g0148 a0001c0001t0004g0039 a0001c0001t0004g0111 a0001c0001t0004g0125 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0235 a0001c0001t0004g0240 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0295 a0001c0001t0006g0298 a0001c0001t0006g0330 a0001c0001t0015g0081 a0001c0001t0015g0082 a0001c0001t0015g0129 a0001c0001t0015g0254 a0001c0001t0018g0157 a0001c0001t0018g0221 a0001c0001t0018g0317 a0001c0001t0019g0292 a0001c0001t0019g0337 a0001c0001t0019g0340 a0001c0001t0025g0283 a0001c0001t0025g0284 a0001c0001t0040g0198 a0001c0001t0050g0051 a0001c0001t0052g0250 a0001c0001t0054g0272 a0001c0001t0057g0107 a0001c0001t0060g0271 a0001c0001t0061g0265 a0001c0003t0016g0164 a0001c0003t0016g0311 a0001c0003t0016g0327 a0001c0003t0016g0341 a0001c0003t0016g0344 a0001c0003t0022g0070 a0001c0003t0022g0071 a0001c0003t0058g0328 a0001c0005t0030g0038 a0001c0005t0030g0073 a0001c0005t0059g0348 a0001c0006t0001g0096 a0001c0006t0001g0247 a0001c0010t0032g0326 a0001c0011t0006g0297 a0003c0007t0031g0150 a0003c0007t0031g0316 a0007c0020t0001g0136 a0009c0009t0032g0249 a0010c0025t0004g0253	126	132	0.9545	-15	c.241 others(32): Show c.2416-329_2416-315delAAAAAAAAAAAAAAA		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	16/28						chr2	TogoVar
SCN1A_chr2_165980813_166133020	166123223	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0283 a0001c0001t0025g0284 a0001c0001t0025g0283 a0001c0001t0025g0284	2	11	0.1818	-15	c.-14 others(34): Show c.-142+3686_-142+3700delTTTTTTTTTTTTTTT		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28						chr2	TogoVar
SCN2A_chr2_165234414_165397304	165272791	CACACACA others(8): Show CACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	356	0.0028	-15	c.-51 others(34): Show c.-51-22980_-51-22966delCACACACACACACAA		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118165463	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0107 a0001c0001t0057g0107	1	96	0.0104	-15	c.14 others(26): Show c.1409_*1423delAAAAAAAAAAAAAAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	4/4				1409		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178890	ATTATTAT others(8): Show ATTATTATTATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02015.hp1 others(24): Show HG00423.hp2 HG01891.hp1 HG02015.hp1 HG02165.hp1 HG02523.hp2 HG02559.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18986.hp1 NA19000.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19076.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0027 a0001c0001t0043	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0002g0181 a0001c0001t0004g0048 a0001c0001t0005g0185 a0001c0001t0006g0182 a0001c0001t0006g0192 a0001c0001t0008g0047 a0001c0001t0008g0191 a0001c0001t0027g0188 a0001c0001t0043g0189	27	408	0.0662	-15	c.-24 others(26): Show c.-2474_-2460delAAAAAATAATAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2252		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178893	ATTATTAT others(8): Show ATTATTATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01257.hp1 NA18953.hp2 others(1): Show HG00544.hp1 HG01257.hp1 NA18953.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0193 a0001c0001t0006g0046	4	366	0.0109	-15	c.-24 others(26): Show c.-2477_-2463delAAAAAAAAATAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2255		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178896	ATTATTTT others(8): Show ATTATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	282	0.0035	-15	c.-24 others(26): Show c.-2480_-2466delAAAAAAAAAAAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2258		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118179408	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02257.hp1 others(5): Show HG01099.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0001 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0008g0044 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0008g0044 a0001c0001t0008g0083 a0001c0001t0018g0118	8	159	0.0503	-15	c.-29 others(26): Show c.-2992_-2978delAAAAAAAAAAAAAAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2770		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165142723	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19030.hp2 HG03471.hp2 NA19030.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0206 a0002c0015t0001g0207 a0002c0015t0001g0206 a0002c0015t0001g0207	2	78	0.0256	-15	c.167 others(34): Show c.1672-1740_1672-1726delACAACAACAACAACA		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	12/27						chr2	TogoVar
SCN3A_chr2_165082526_165209050	165156512	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02615.hp1 others(6): Show HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02886.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0017	a0001c0001t0001 a0001c0004t0002 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0005t0002 a0001c0017t0004	a0001c0001t0001g0071 a0001c0001t0001g0202 a0001c0004t0002g0039 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0202 a0001c0004t0002g0039 a0001c0005t0002g0001 a0001c0005t0002g0038 a0001c0005t0002g0041 a0001c0005t0002g0056 a0001c0017t0004g0021	9	34	0.2647	-15	c.103 others(32): Show c.1032-624_1032-610delTTTTTTTTTTTTTTT		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27						chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555082	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18980.hp2 NA18966.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0089 a0001c0003t0004g0003 a0001c0003t0004g0089	2	335	0.0060	-15	c.454 others(32): Show c.4543-548_4543-534delTATATATATATATAT		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555090	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0010 a0001c0008t0002g0010	1	332	0.0030	-15	c.454 others(32): Show c.4542+551_4543-542delTATATATATATATAT		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN5A_chr3_38543062_38654687	38621896	GTACCTCC others(8): Show GTACCTCCTAGCTGCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(68): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18945.hp2 NA18950.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0054 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0015 a0002c0016 a0002c0061 a0002c0062 a0002c0064 a0007c0017 a0013c0048 a0014c0060	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0014 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0014t0004 a0001c0054t0001 a0002c0005t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0007t0002 a0002c0007t0003 a0002c0007t0024 a0002c0009t0007 a0002c0015t0001 a0002c0016t0002 a0002c0061t0001 a0002c0062t0008 a0002c0064t0001 a0007c0017t0002 a0013c0048t0001 a0014c0060t0023	a0001c0001t0002g0174 a0001c0001t0002g0220 a0001c0001t0002g0250 others(67): Show a0001c0001t0002g0174 a0001c0001t0002g0220 a0001c0001t0002g0250 a0001c0001t0003g0198 a0001c0001t0003g0223 a0001c0001t0003g0249 a0001c0001t0003g0262 a0001c0001t0003g0304 a0001c0001t0004g0328 a0001c0001t0005g0066 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0210 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0237 a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0273 a0001c0002t0001g0326 a0001c0002t0014g0254 a0001c0003t0003g0077 a0001c0003t0003g0103 a0001c0003t0003g0179 a0001c0003t0003g0181 a0001c0003t0004g0114 a0001c0003t0004g0115 a0001c0003t0004g0207 a0001c0004t0001g0005 a0001c0004t0001g0180 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0014t0004g0269 a0001c0054t0001g0192 a0002c0005t0001g0222 a0002c0005t0001g0235 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0245 a0002c0005t0001g0251 a0002c0005t0001g0261 a0002c0006t0002g0221 a0002c0006t0002g0252 a0002c0006t0003g0256 a0002c0006t0003g0257 a0002c0006t0004g0232 a0002c0007t0002g0012 a0002c0007t0002g0130 a0002c0007t0003g0047 a0002c0007t0003g0129 a0002c0007t0003g0238 a0002c0007t0003g0239 a0002c0007t0024g0217 a0002c0009t0007g0035 a0002c0015t0001g0013 a0002c0016t0002g0119 a0002c0016t0002g0120 a0002c0061t0001g0058 a0002c0062t0008g0014 a0002c0064t0001g0011 a0007c0017t0002g0044 a0007c0017t0002g0214 a0013c0048t0001g0046 a0014c0060t0023g0048	71	338	0.2101	-15	c.482 others(30): Show c.482+489_482+503delGGCAGCTAGGAGGTA		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	4/27						chr3	TogoVar
SCN5A_chr3_38543062_38654687	38653668	AGCAAGTG others(8): Show AGCAAGTGGGGTCTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01169.hp2 others(7): Show HG01074.hp2 HG01167.hp1 HG01169.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0021	a0001c0004 a0001c0008 a0001c0055 others(5): Show a0001c0004 a0001c0008 a0001c0055 a0002c0009 a0002c0015 a0002c0059 a0015c0074 a0021c0056	a0001c0004t0001 a0001c0008t0002 a0001c0055t0019 others(6): Show a0001c0004t0001 a0001c0008t0002 a0001c0055t0019 a0002c0009t0002 a0002c0009t0007 a0002c0015t0013 a0002c0059t0002 a0015c0074t0001 a0021c0056t0001	a0001c0004t0001g0118 a0001c0008t0002g0023 a0001c0055t0019g0033 others(7): Show a0001c0004t0001g0118 a0001c0008t0002g0023 a0001c0055t0019g0033 a0002c0009t0002g0017 a0002c0009t0002g0018 a0002c0009t0007g0015 a0002c0015t0013g0024 a0002c0059t0002g0034 a0015c0074t0001g0019 a0021c0056t0001g0016	10	338	0.0296	-15	c.-42 others(26): Show c.-4205_-4191delCGAGACCCCACTTGC		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding					3982		chr3	TogoVar
SCN8A_chr12_51586233_51817864	51639879	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	18	0.0556	-15	c.-54 others(34): Show c.-54-22861_-54-22847delTTTTTTTTTTTTTTT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51677056	GTTTTATT others(8): Show GTTTTATTTTATTTTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0202 a0001c0002t0001g0175 a0001c0001t0006g0202 a0001c0002t0001g0175	2	74	0.0270	-15	c.277 others(32): Show c.277-7077_277-7063delTTTTATTTTATTTTA		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51721107	AATATTTA others(8): Show AATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01433.hp2 others(3): Show HG01070.hp2 HG01109.hp2 HG01433.hp2 HG02258.hp1 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0001 a0001c0003t0010 a0001c0010t0001 a0001c0002t0001 a0001c0003t0010 a0001c0010t0001	a0001c0002t0001g0119 a0001c0002t0001g0174 a0001c0003t0010g0061 others(3): Show a0001c0002t0001g0119 a0001c0002t0001g0174 a0001c0003t0010g0061 a0001c0003t0010g0065 a0001c0003t0010g0201 a0001c0010t0001g0033	6	188	0.0319	-15	c.163 others(32): Show c.1636-438_1636-424delATATTTATTTATTGT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26						chr12	TogoVar
SCN8A_chr12_51586233_51817864	51770880	TCCTCTTA others(8): Show TCCTCTTAGCACTGTC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	200	0.0050	-15	c.364 others(32): Show c.3645+203_3645+217delTAGCACTGTCCCTCT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51780565	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02809.hp2 HG01169.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0009 a0001c0001t0003 a0001c0005t0009	a0001c0001t0003g0037 a0001c0005t0009g0073 a0001c0001t0003g0037 a0001c0005t0009g0073	2	27	0.0741	-15	c.382 others(30): Show c.3820-59_3820-45delTTTTTTTTTTTTTTT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19090.hp2 HG02602.hp2 NA19090.hp2	a0002 a0007 a0002 a0007	a0002c0015 a0007c0019 a0002c0015 a0007c0019	a0002c0015t0004 a0007c0019t0004 a0002c0015t0004 a0007c0019t0004	a0002c0015t0004g0173 a0007c0019t0004g0252 a0002c0015t0004g0173 a0007c0019t0004g0252	2	21	0.0952	-15	c.477 others(32): Show c.4775-126_4775-112delAAAAAAAAAAAAAAA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370192	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01258.hp1 HG03017.hp1 others(4): Show HG01167.hp1 HG01258.hp1 HG03017.hp1 HG03490.hp1 HG03710.hp2 HG03927.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0009 others(1): Show a0001c0002 a0001c0003 a0002c0009 a0003c0033	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0009t0004 a0003c0033t0003	a0001c0002t0001g0237 a0001c0002t0002g0227 a0001c0003t0001g0238 others(4): Show a0001c0002t0001g0237 a0001c0002t0002g0227 a0001c0003t0001g0238 a0001c0003t0002g0243 a0002c0009t0004g0228 a0002c0009t0004g0229 a0003c0033t0003g0230	7	255	0.0275	-15	c.-51 others(32): Show c.-51+5490_-51+5504delATTATTATTATTATT		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(8): Show AATATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG02622.hp2 others(8): Show HG00323.hp1 HG00558.hp2 HG02622.hp2 HG03017.hp1 NA18944.hp2 NA18966.hp2 NA19007.hp1 NA19060.hp1 NA19060.hp2 NA19085.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0001g0028 a0001c0002t0001g0029 a0002c0004t0001g0032	11	211	0.0521	-15	c.-9+ others(30): Show c.-9+3098_-9+3112delTATATATATATATAT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23315972	CCATCCTC others(8): Show CCATCCTCACCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02559.hp1 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0021 a0002c0004t0001g0032 a0002c0004t0001g0021 a0002c0004t0001g0032	2	304	0.0066	-15	c.-9+ others(32): Show c.-9+13537_-9+13551delATCCTCACCATCATC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365605	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01106.hp2 others(42): Show HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02135.hp1 HG02145.hp1 HG02698.hp1 HG02818.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 NA18906.hp1 NA18944.hp1 NA18949.hp1 NA18957.hp2 NA18959.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19007.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0027 others(42): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0004g0085 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0001g0175 a0001c0006t0001g0046	45	280	0.1607	-15	c.777 others(32): Show c.777-2240_777-2226delAGAAAAAAGAAAGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCO1_chr17_10667474_10702533	10690829	ATACGTCA others(8): Show ATACGTCATGGAATAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02451.hp2 others(21): Show HG01109.hp1 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 others(11): Show a0002c0002t0020 a0002c0002t0021 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0033 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0061 a0002c0002t0062	a0002c0002t0020g0031 a0002c0002t0020g0219 a0002c0002t0021g0019 others(12): Show a0002c0002t0020g0031 a0002c0002t0020g0219 a0002c0002t0021g0019 a0002c0002t0029g0063 a0002c0002t0030g0064 a0002c0002t0031g0060 a0002c0002t0033g0062 a0002c0002t0054g0217 a0002c0002t0055g0218 a0002c0002t0056g0228 a0002c0002t0057g0227 a0002c0002t0058g0231 a0002c0002t0059g0230 a0002c0002t0061g0221 a0002c0002t0062g0229	24	414	0.0580	-15	c.655 others(32): Show c.655+1028_655+1042delGTATTCCATGACGTA		SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	4/5						chr17	TogoVar
SCO1_chr17_10667474_10702533	10691357	GTGATCCA others(8): Show GTGATCCACCCACTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0056 a0002c0002t0056	a0002c0002t0056g0228 a0002c0002t0056g0228	1	414	0.0024	-15	c.655 others(30): Show c.655+500_655+514delAAAGTGGGTGGATCA		SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	4/5						chr17	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 NA21309.hp2 HG03130.hp1 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0011 a0001c0004t0008 a0001c0004t0011	a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048 a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048	3	17	0.1765	-15	c.69+ others(30): Show c.69+7151_69+7165delTTTTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119473365	GTCCTCTC others(8): Show GTCCTCTCCCAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	288	0.0035	-15	c.405 others(28): Show c.405+73_405+87delGGCCCTGGGAGAGGA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	4/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119523392	CTATTATT others(8): Show CTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp2 HG03710.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0201 a0001c0002t0005g0113 a0001c0001t0002g0201 a0001c0002t0005g0113	2	135	0.0148	-15	c.72+ others(28): Show c.72+748_72+762delATAATAATAATAATA		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43194029	TTTTTTTT others(8): Show TTTTTTTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02818.hp2 HG02922.hp1 others(5): Show HG02004.hp1 HG02818.hp2 HG02922.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 NA19043.hp1 NA20905.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0008 a0004c0028 a0013c0033 a0001c0008 a0004c0028 a0013c0033	a0001c0008t0009 a0001c0008t0019 a0004c0028t0009 others(2): Show a0001c0008t0009 a0001c0008t0019 a0004c0028t0009 a0004c0028t0081 a0013c0033t0009	a0001c0008t0009g0113 a0001c0008t0009g0197 a0001c0008t0009g0247 others(5): Show a0001c0008t0009g0113 a0001c0008t0009g0197 a0001c0008t0009g0247 a0001c0008t0019g0029 a0001c0008t0019g0091 a0004c0028t0009g0043 a0004c0028t0081g0274 a0013c0033t0009g0057	8	278	0.0288	-15	c.99 others(26): Show c.9953_*9967delGAAAAGAAAAAAAAA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					3250		chr22	TogoVar
SCYGR5_chr2_227661804_227672061	227664655	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03209.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0004c0004t0001g0000	3	101	0.0297	-15	c.-21 others(26): Show c.-2148_-2134delAAAAAAAAAAAAAAA		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2148		chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227669564	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG01993.hp2 others(16): Show HG01261.hp2 HG01884.hp2 HG01993.hp2 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG06807.hp2 NA18522.hp1 NA18955.hp2 NA18969.hp1 NA18984.hp1 NA20129.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0004c0004t0001g0000	19	149	0.1275	-15	c.25 others(26): Show c.2504_*2518delAAAATAAAATAAAAT		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2504		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227745963	TGCGGTGG others(8): Show TGCGGTGGTGGCTGCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0007 a0006c0008	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0007t0001 a0006c0008t0001	a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 a0002c0007t0001g0000 a0006c0008t0001g0000	387	456	0.8487	-15	c.87_ others(21): Show c.87_101delCGGTGGTGGCTGCGG	p.Gly others(11): Show p.Gly30_Gly34del	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding	1/1	87/327	87/327	29/108		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850996	TTTTTTTT others(8): Show TTTTTTTTTTTATTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG03041.hp2 others(2): Show HG01884.hp1 HG02976.hp2 HG03041.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0101 a0001c0001t0015g0154 others(1): Show a0001c0001t0015g0026 a0001c0001t0015g0101 a0001c0001t0015g0154 a0001c0001t0015g0162	5	416	0.0120	-15	c.27 others(26): Show c.2702_*2716delCAAATAAAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2702		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169853905	AACTTAGA others(8): Show AACTTAGAGCTCTAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02630.hp2 others(1): Show HG02109.hp2 HG02280.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0021 a0001c0001t0022	a0001c0001t0021g0151 a0001c0001t0021g0187 a0001c0001t0022g0152 others(1): Show a0001c0001t0021g0151 a0001c0001t0021g0187 a0001c0001t0022g0152 a0001c0001t0022g0188	4	416	0.0096	-15	c.200 others(32): Show c.2008-148_2008-134delGTTAGAGCTCTAAGT		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	12/12						chr1	TogoVar
SDC2_chr8_96488813_96616790	96508296	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG01346.hp1 others(19): Show HG00544.hp1 HG01109.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01993.hp1 HG02148.hp2 HG02155.hp2 HG02486.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 NA18906.hp1 NA18952.hp2 NA18961.hp2 NA18971.hp1 NA18988.hp1 NA19056.hp2 NA19077.hp2 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0003c0004t0003	a0001c0001t0001g0140 a0001c0001t0001g0274 a0001c0001t0002g0130 others(19): Show a0001c0001t0001g0140 a0001c0001t0001g0274 a0001c0001t0002g0130 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0005g0322 a0001c0001t0005g0328 a0001c0001t0007g0128 a0001c0003t0001g0039 a0001c0003t0001g0054 a0001c0003t0003g0180 a0001c0003t0003g0325 a0001c0003t0003g0326 a0002c0002t0001g0012 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0003c0004t0003g0324 a0003c0004t0003g0327	22	83	0.2651	-15	c.60+ others(32): Show c.60+13999_60+14013delAATAATAATAATAAT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCBP2_chr20_1304909_1334139	1314522	GGAAAGGA others(8): Show GGAAAGGAAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	428	0.0023	-15	c.226 others(32): Show c.226-1039_226-1025delTTTTCTTTTCCTTTC		SDCBP2	ENSG00000125775.15	transcript	ENST00000360779.4	protein_coding	4/8						chr20	TogoVar
SDCCAG8_chr1_243251041_243505091	243353490	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0136 a0002c0003t0001g0136	1	15	0.0667	-15	c.147 others(34): Show c.1473+9178_1473+9192delAAAAAAAAAAAAAAA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28666550	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	379	0.0026	-15	c.-46 others(26): Show c.-4689_-4675delAAAAAAAAAAAAAAA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					4645		chr17	TogoVar
SDHC_chr1_161309381_161368206	161354695	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	328	0.0030	-15	c.242 others(32): Show c.242-1980_242-1966delGTGTGTGTGTGTGTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3357328	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02976.hp2 others(8): Show HG02809.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0010 a0012 a0025 a0031	a0001c0008 a0001c0011 a0001c0014 others(8): Show a0001c0008 a0001c0011 a0001c0014 a0001c0088 a0002c0043 a0002c0090 a0005c0058 a0010c0082 a0012c0015 a0025c0081 a0031c0069	a0001c0008t0007 a0001c0011t0039 a0001c0014t0018 others(8): Show a0001c0008t0007 a0001c0011t0039 a0001c0014t0018 a0001c0088t0009 a0002c0043t0035 a0002c0090t0010 a0005c0058t0012 a0010c0082t0001 a0012c0015t0017 a0025c0081t0008 a0031c0069t0069	a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0062 others(8): Show a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0062 a0001c0088t0009g0048 a0002c0043t0035g0079 a0002c0090t0010g0047 a0005c0058t0012g0063 a0010c0082t0001g0076 a0012c0015t0017g0066 a0025c0081t0008g0075 a0031c0069t0069g0064	11	35	0.3143	-15	c.298 others(34): Show c.298+55469_298+55483delTTTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3518938	ATGCAATG others(8): Show ATGCAATGGAATACGC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	116	0.0086	-15	c.299 others(36): Show c.299-100140_299-100126delGCAATGGAATACGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3580986	AAAAAAAA others(8): Show AAAAAAAAACCAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0063 a0003c0001t0063	a0003c0001t0063g0033 a0003c0001t0063g0033	1	115	0.0087	-15	c.299 others(34): Show c.299-38089_299-38075delAAAACCAAAACAAAA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582049	CCTCAGGT others(8): Show CCTCAGGTAGGCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00639.hp2 others(46): Show HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0013 a0014 a0018 a0019 a0021 a0023 a0026 a0032 a0033 a0035	a0001c0002 a0001c0004 a0001c0005 others(40): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0034 a0001c0038 a0001c0040 a0001c0046 a0001c0048 a0001c0049 a0001c0059 a0001c0061 a0001c0064 a0001c0071 a0002c0013 a0002c0029 a0002c0042 a0003c0001 a0003c0033 a0004c0003 a0005c0055 a0005c0056 a0005c0057 a0006c0077 a0007c0006 a0007c0044 a0011c0021 a0011c0022 a0013c0070 a0014c0085 a0018c0024 a0019c0050 a0021c0068 a0023c0083 a0026c0028 a0032c0075 a0033c0051 a0035c0073	a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 others(46): Show a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0051 a0001c0007t0003 a0001c0008t0004 a0001c0010t0002 a0001c0010t0060 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0034t0028 a0001c0038t0013 a0001c0040t0001 a0001c0046t0022 a0001c0048t0001 a0001c0049t0036 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0001c0071t0057 a0002c0013t0015 a0002c0013t0064 a0002c0029t0005 a0002c0042t0002 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0033t0002 a0004c0003t0052 a0005c0055t0055 a0005c0056t0006 a0005c0057t0013 a0006c0077t0003 a0007c0006t0001 a0007c0044t0001 a0011c0021t0073 a0011c0022t0072 a0013c0070t0026 a0014c0085t0043 a0018c0024t0061 a0019c0050t0019 a0021c0068t0014 a0023c0083t0044 a0026c0028t0049 a0032c0075t0008 a0033c0051t0062 a0035c0073t0001	a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 others(46): Show a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0007t0003g0032 a0001c0008t0004g0095 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0034t0028g0098 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0046t0022g0091 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0071t0057g0031 a0002c0013t0015g0024 a0002c0013t0064g0023 a0002c0029t0005g0094 a0002c0042t0002g0105 a0003c0001t0003g0037 a0003c0001t0059g0026 a0003c0001t0063g0033 a0003c0033t0002g0103 a0004c0003t0052g0069 a0005c0055t0055g0021 a0005c0056t0006g0097 a0005c0057t0013g0045 a0006c0077t0003g0099 a0007c0006t0001g0036 a0007c0044t0001g0020 a0011c0021t0073g0007 a0011c0022t0072g0008 a0013c0070t0026g0112 a0014c0085t0043g0010 a0018c0024t0061g0013 a0019c0050t0019g0092 a0021c0068t0014g0014 a0023c0083t0044g0004 a0026c0028t0049g0035 a0032c0075t0008g0015 a0033c0051t0062g0019 a0035c0073t0001g0016	49	116	0.4224	-15	c.299 others(34): Show c.299-37020_299-37006delCCTGTCTCAGGTAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582333	GTCTCAGG others(8): Show GTCTCAGGTAGGTCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	108	0.0093	-15	c.299 others(34): Show c.299-36746_299-36732delTCTCAGGTAGGTCTC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3582349	CCTCAGGT others(8): Show CCTCAGGTAGGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0073 a0011c0021t0073	a0011c0021t0073g0007 a0011c0021t0073g0007	1	113	0.0088	-15	c.299 others(34): Show c.299-36702_299-36688delGTCTCAGGTAGGTCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3705425	GATTTTAT others(8): Show GATTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01175.hp2 others(9): Show HG00639.hp1 HG00738.hp2 HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0019 a0023	a0001c0007 a0001c0008 a0001c0010 others(8): Show a0001c0007 a0001c0008 a0001c0010 a0001c0014 a0001c0034 a0001c0064 a0001c0088 a0002c0041 a0003c0033 a0019c0050 a0023c0083	a0001c0007t0021 a0001c0008t0007 a0001c0010t0002 others(8): Show a0001c0007t0021 a0001c0008t0007 a0001c0010t0002 a0001c0014t0018 a0001c0034t0028 a0001c0064t0006 a0001c0088t0009 a0002c0041t0007 a0003c0033t0002 a0019c0050t0019 a0023c0083t0044	a0001c0007t0021g0110 a0001c0008t0007g0067 a0001c0010t0002g0085 others(9): Show a0001c0007t0021g0110 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0034t0028g0098 a0001c0064t0006g0111 a0001c0088t0009g0048 a0002c0041t0007g0108 a0003c0033t0002g0103 a0019c0050t0019g0092 a0023c0083t0044g0004	12	32	0.3750	-15	c.713 others(34): Show c.713+63376_713+63390delATTTTATTTTATTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3821237	TCAGACAC others(8): Show TCAGACACTGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01361.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2	a0001 a0002 a0005 others(13): Show a0001 a0002 a0005 a0009 a0010 a0011 a0013 a0014 a0015 a0017 a0020 a0027 a0028 a0031 a0032 a0033	a0001c0002 a0001c0017 a0001c0031 others(24): Show a0001c0002 a0001c0017 a0001c0031 a0001c0048 a0001c0060 a0001c0067 a0001c0071 a0001c0092 a0002c0012 a0002c0043 a0002c0066 a0005c0058 a0009c0019 a0009c0020 a0010c0082 a0011c0021 a0011c0022 a0013c0070 a0014c0085 a0015c0074 a0017c0035 a0020c0063 a0027c0089 a0028c0018 a0031c0069 a0032c0075 a0033c0051	a0001c0002t0002 a0001c0017t0011 a0001c0031t0001 others(24): Show a0001c0002t0002 a0001c0017t0011 a0001c0031t0001 a0001c0048t0001 a0001c0060t0041 a0001c0067t0068 a0001c0071t0057 a0001c0092t0048 a0002c0012t0016 a0002c0043t0035 a0002c0066t0023 a0005c0058t0012 a0009c0019t0074 a0009c0020t0070 a0010c0082t0001 a0011c0021t0073 a0011c0022t0072 a0013c0070t0026 a0014c0085t0043 a0015c0074t0042 a0017c0035t0005 a0020c0063t0007 a0027c0089t0047 a0028c0018t0071 a0031c0069t0069 a0032c0075t0008 a0033c0051t0062	a0001c0002t0002g0096 a0001c0017t0011g0051 a0001c0017t0011g0052 others(25): Show a0001c0002t0002g0096 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0031t0001g0018 a0001c0048t0001g0029 a0001c0060t0041g0080 a0001c0067t0068g0001 a0001c0071t0057g0031 a0001c0092t0048g0057 a0002c0012t0016g0002 a0002c0043t0035g0079 a0002c0066t0023g0088 a0005c0058t0012g0063 a0009c0019t0074g0006 a0009c0020t0070g0009 a0010c0082t0001g0076 a0011c0021t0073g0007 a0011c0022t0072g0008 a0013c0070t0026g0112 a0014c0085t0043g0010 a0015c0074t0042g0081 a0017c0035t0005g0058 a0020c0063t0007g0106 a0027c0089t0047g0056 a0028c0018t0071g0005 a0031c0069t0069g0064 a0032c0075t0008g0015 a0033c0051t0062g0019	28	116	0.2414	-15	c.714 others(30): Show c.714-209_714-195delACACTGGGGCTGCAG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0015 a0032c0075t0008g0015	1	5	0.2000	-15	c.242 others(32): Show c.2420+343_2420+357delTTTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr7	TogoVar

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