Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPECC1_chr17_20004359_20324026	20051129	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02572.hp2 HG02723.hp2 others(1): Show HG02080.hp2 HG02572.hp2 HG02723.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027	a0001c0001t0002g0154 a0001c0001t0015g0137 a0001c0001t0025g0158 others(1): Show a0001c0001t0002g0154 a0001c0001t0015g0137 a0001c0001t0025g0158 a0001c0001t0027g0185	4	250	0.0160	-12	c.-22 others(31): Show c.-22+41713_-22+41724delTTTCCTTCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20082957	TGTTCGTT others(5): Show TGTTCGTTCGTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(76): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02723.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19068.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0007 a0003c0012 a0003c0013 a0004c0005	a0001c0001t0041 a0001c0003t0021 a0001c0003t0055 others(29): Show a0001c0001t0041 a0001c0003t0021 a0001c0003t0055 a0001c0003t0060 a0001c0003t0062 a0001c0003t0063 a0001c0003t0070 a0001c0003t0071 a0001c0003t0072 a0002c0002t0001 a0002c0002t0020 a0002c0002t0037 a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0019 a0003c0004t0029 a0003c0004t0034 a0003c0004t0042 a0003c0004t0043 a0003c0004t0054 a0003c0004t0076 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0012t0108 a0003c0012t0111 a0003c0013t0112 a0004c0005t0008 a0004c0005t0057	a0001c0001t0041g0024 a0001c0003t0021g0194 a0001c0003t0021g0198 others(76): Show a0001c0001t0041g0024 a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0055g0196 a0001c0003t0060g0195 a0001c0003t0062g0242 a0001c0003t0063g0197 a0001c0003t0070g0053 a0001c0003t0071g0054 a0001c0003t0072g0042 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0020g0019 a0002c0002t0020g0055 a0002c0002t0037g0010 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0078 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0042g0210 a0003c0004t0043g0203 a0003c0004t0054g0217 a0003c0004t0076g0190 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0012t0108g0100 a0003c0012t0111g0098 a0003c0013t0112g0097 a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 a0004c0005t0057g0223	79	250	0.3160	-12	c.-21 others(31): Show c.-21-13637_-21-13626delGTTCGTTCGTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20087205	TTTACTAT others(5): Show TTTACTATTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0034 a0003c0004t0034	a0003c0004t0034g0094 a0003c0004t0034g0094	1	250	0.0040	-12	c.-21 others(29): Show c.-21-9424_-21-9413delTACTATTTCTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20099694	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	250	0.0040	-12	c.147 others(29): Show c.147+2911_147+2922delAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20114489	CTGTTTTT others(5): Show CTGTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02630.hp1 others(6): Show HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0084 a0001c0003t0007 a0001c0003t0012 others(2): Show a0001c0001t0084 a0001c0003t0007 a0001c0003t0012 a0001c0003t0017 a0001c0003t0018	a0001c0001t0084g0188 a0001c0003t0007g0057 a0001c0003t0007g0059 others(6): Show a0001c0001t0084g0188 a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 a0001c0003t0012g0058 a0001c0003t0012g0063 a0001c0003t0012g0064 a0001c0003t0017g0060 a0001c0003t0018g0061	9	250	0.0360	-12	c.283 others(29): Show c.283+3941_283+3952delGTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20116803	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0049 a0001c0003t0048 a0001c0003t0049	a0001c0003t0048g0056 a0001c0003t0049g0011 a0001c0003t0048g0056 a0001c0003t0049g0011	2	250	0.0080	-12	c.283 others(29): Show c.283+6260_283+6271delTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20264457	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp1 HG02615.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0039 a0001c0010t0100 a0001c0003t0039 a0001c0010t0100	a0001c0003t0039g0207 a0001c0010t0100g0102 a0001c0003t0039g0207 a0001c0010t0100g0102	2	250	0.0080	-12	c.294 others(31): Show c.2940+4184_2940+4195delTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20270433	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0019 a0002c0002t0020g0019	1	250	0.0040	-12	c.294 others(33): Show c.2940+10162_2940+10173delAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298938	AGAGAGAG others(5): Show AGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02717.hp2 others(3): Show HG02109.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 others(2): Show a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 a0001c0006t0047 a0001c0006t0101	a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(3): Show a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 a0001c0006t0045g0071 a0001c0006t0047g0067 a0001c0006t0101g0160	6	250	0.0240	-12	c.305 others(31): Show c.3057+1863_3057+1874delAGAGAGAGAGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF1_chr20_3772504_3786448	3774054	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	418	0.0024	-12	c.41 others(23): Show c.4146_*4157delTTTTTTTTTTTT	SPEF1	ENSG00000101222.12	transcript	ENST00000379756.3	protein_coding		3449		chr20	TogoVar
SPEF2_chr5_35612863_35819611	35661254	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02109.hp1 others(5): Show HG01109.hp1 HG01884.hp2 HG02109.hp1 HG02683.hp1 HG02896.hp2 HG04199.hp1 NA18965.hp1 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0023 a0025 a0043	a0001c0003 a0003c0004 a0004c0005 others(3): Show a0001c0003 a0003c0004 a0004c0005 a0023c0028 a0025c0047 a0043c0026	a0001c0003t0001 a0003c0004t0001 a0004c0005t0001 others(3): Show a0001c0003t0001 a0003c0004t0001 a0004c0005t0001 a0023c0028t0001 a0025c0047t0001 a0043c0026t0001	a0001c0003t0001g0157 a0001c0003t0001g0160 a0003c0004t0001g0121 others(5): Show a0001c0003t0001g0157 a0001c0003t0001g0160 a0003c0004t0001g0121 a0003c0004t0001g0122 a0004c0005t0001g0123 a0023c0028t0001g0190 a0025c0047t0001g0132 a0043c0026t0001g0191	8	268	0.0299	-12	c.116 others(31): Show c.1167+2081_1167+2092delATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35734700	CTTTTTTT others(5): Show CTTTTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0040 a0006c0008t0001g0040	1	268	0.0037	-12	c.306 others(31): Show c.3064-5210_3064-5199delCTTTTTTTTTTT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	21/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35777664	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00639.hp2 others(46): Show HG00140.hp1 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA18906.hp2 NA18966.hp1 NA19085.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(11): Show a0001 a0003 a0005 a0006 a0011 a0012 a0013 a0015 a0016 a0018 a0021 a0024 a0026 a0039	a0001c0002 a0003c0004 a0003c0022 others(14): Show a0001c0002 a0003c0004 a0003c0022 a0003c0050 a0005c0006 a0006c0007 a0011c0015 a0011c0024 a0012c0014 a0013c0017 a0015c0023 a0016c0021 a0018c0020 a0021c0049 a0024c0033 a0026c0034 a0039c0048	a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 others(14): Show a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 a0005c0006t0001 a0006c0007t0001 a0011c0015t0001 a0011c0024t0001 a0012c0014t0001 a0013c0017t0001 a0015c0023t0001 a0016c0021t0001 a0018c0020t0001 a0021c0049t0001 a0024c0033t0001 a0026c0034t0001 a0039c0048t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0071 others(46): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0071 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0069 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0110 a0003c0004t0001g0127 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0222 a0003c0004t0001g0225 a0003c0004t0001g0246 a0003c0022t0001g0219 a0003c0022t0001g0220 a0003c0050t0001g0244 a0005c0006t0001g0104 a0005c0006t0001g0106 a0006c0007t0001g0171 a0011c0015t0001g0138 a0011c0015t0001g0140 a0011c0024t0001g0139 a0012c0014t0001g0016 a0012c0014t0001g0018 a0013c0017t0001g0013 a0013c0017t0001g0014 a0015c0023t0001g0200 a0016c0021t0001g0100 a0016c0021t0001g0233 a0018c0020t0001g0259 a0018c0020t0001g0260 a0021c0049t0001g0137 a0024c0033t0001g0017 a0026c0034t0001g0019 a0039c0048t0001g0232	49	268	0.1828	-12	c.421 others(31): Show c.4217+1307_4217+1318delAATAAATAAATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219431548	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02970.hp2 others(7): Show HG02258.hp2 HG02486.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0010 a0002c0004 a0002c0008 others(3): Show a0001c0010 a0002c0004 a0002c0008 a0002c0017 a0002c0054 a0007c0041	a0001c0010t0001 a0002c0004t0002 a0002c0008t0002 others(3): Show a0001c0010t0001 a0002c0004t0002 a0002c0008t0002 a0002c0017t0001 a0002c0054t0001 a0007c0041t0001	a0001c0010t0001g0011 a0001c0010t0001g0202 a0001c0010t0001g0203 others(7): Show a0001c0010t0001g0011 a0001c0010t0001g0202 a0001c0010t0001g0203 a0001c0010t0001g0205 a0002c0004t0002g0142 a0002c0008t0002g0213 a0002c0008t0002g0217 a0002c0017t0001g0184 a0002c0054t0001g0198 a0007c0041t0001g0183	10	304	0.0329	-12	c.-34 others(23): Show c.-3429_-3418delTTCCTTCCTTCC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding		3294		chr2	TogoVar
SPEG_chr2_219429843_219498629	219463392	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	304	0.0033	-12	c.270 others(31): Show c.2706-1014_2706-1003delTTTTTTTTTTTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEG_chr2_219429843_219498629	219465900	GGTGTGTG others(5): Show GGTGTGTGCATGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0024 a0002c0004t0004g0024	1	304	0.0033	-12	c.288 others(31): Show c.2882-1266_2882-1255delCATGCGTGTGTG	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEG_chr2_219429843_219498629	219465922	TGCGCGCG others(5): Show TGCGCGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00642.hp1 others(97): Show HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19082.hp1 NA19086.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0005 a0007 a0009 a0014 a0016 a0018 a0023 a0026 a0027 a0028 a0032 a0036 a0038 a0042 a0043 a0044 a0049	a0001c0002 a0001c0057 a0001c0066 others(25): Show a0001c0002 a0001c0057 a0001c0066 a0002c0003 a0002c0008 a0002c0064 a0002c0065 a0002c0068 a0003c0005 a0005c0006 a0005c0081 a0007c0014 a0009c0051 a0009c0052 a0014c0024 a0016c0021 a0018c0071 a0023c0062 a0026c0050 a0027c0059 a0028c0083 a0032c0086 a0036c0082 a0038c0070 a0042c0073 a0043c0056 a0044c0079 a0049c0084	a0001c0002t0001 a0001c0002t0010 a0001c0057t0002 others(28): Show a0001c0002t0001 a0001c0002t0010 a0001c0057t0002 a0001c0066t0001 a0002c0003t0002 a0002c0003t0005 a0002c0008t0002 a0002c0064t0002 a0002c0065t0002 a0002c0068t0002 a0003c0005t0001 a0005c0006t0001 a0005c0006t0002 a0005c0081t0002 a0007c0014t0003 a0009c0051t0002 a0009c0052t0002 a0014c0024t0001 a0016c0021t0002 a0018c0071t0001 a0023c0062t0001 a0026c0050t0002 a0027c0059t0001 a0028c0083t0005 a0032c0086t0001 a0036c0082t0002 a0038c0070t0003 a0042c0073t0001 a0043c0056t0001 a0044c0079t0002 a0049c0084t0001	a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0080 others(93): Show a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0188 a0001c0002t0001g0219 a0001c0002t0001g0242 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0010g0127 a0001c0057t0002g0069 a0001c0066t0001g0089 a0002c0003t0002g0005 a0002c0003t0002g0014 a0002c0003t0002g0028 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0077 a0002c0003t0002g0081 a0002c0003t0002g0085 a0002c0003t0002g0097 a0002c0003t0002g0101 a0002c0003t0002g0121 a0002c0003t0002g0134 a0002c0003t0002g0243 a0002c0003t0002g0248 a0002c0003t0002g0251 a0002c0003t0002g0255 a0002c0003t0002g0258 a0002c0003t0002g0261 a0002c0003t0002g0262 a0002c0003t0002g0264 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0275 a0002c0003t0005g0099 a0002c0008t0002g0100 a0002c0008t0002g0105 a0002c0008t0002g0107 a0002c0064t0002g0082 a0002c0065t0002g0073 a0002c0068t0002g0068 a0003c0005t0001g0070 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0083 a0003c0005t0001g0088 a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0187 a0003c0005t0001g0244 a0003c0005t0001g0256 a0005c0006t0001g0114 a0005c0006t0002g0003 a0005c0006t0002g0006 a0005c0006t0002g0110 a0005c0006t0002g0112 a0005c0006t0002g0116 a0005c0006t0002g0118 a0005c0006t0002g0119 a0005c0006t0002g0259 a0005c0081t0002g0115 a0007c0014t0003g0108 a0007c0014t0003g0109 a0009c0051t0002g0271 a0009c0052t0002g0093 a0014c0024t0001g0268 a0016c0021t0002g0090 a0018c0071t0001g0023 a0023c0062t0001g0252 a0026c0050t0002g0098 a0027c0059t0001g0245 a0028c0083t0005g0111 a0032c0086t0001g0168 a0036c0082t0002g0117 a0038c0070t0003g0265 a0042c0073t0001g0071 a0043c0056t0001g0067 a0044c0079t0002g0276 a0049c0084t0001g0022	100	304	0.3290	-12	c.288 others(31): Show c.2882-1250_2882-1239delCGCGCGTGTGCG	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEG_chr2_219429843_219498629	219465927	GCGTGTGC others(5): Show GCGTGTGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20129.hp1 HG03486.hp2 NA20129.hp1	a0001 a0039 a0001 a0039	a0001c0002 a0039c0028 a0001c0002 a0039c0028	a0001c0002t0001 a0039c0028t0001 a0001c0002t0001 a0039c0028t0001	a0001c0002t0001g0106 a0039c0028t0001g0240 a0001c0002t0001g0106 a0039c0028t0001g0240	2	304	0.0066	-12	c.288 others(31): Show c.2882-1234_2882-1223delCGTGTGCGTGCA	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEM1_chr17_7415324_7426632	7424547	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01192.hp1 others(28): Show HG00639.hp2 HG01175.hp2 HG01192.hp1 HG01516.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18956.hp1 NA18980.hp1 NA19043.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0005c0005t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0001 a0003c0003t0001g0001 a0005c0005t0001g0001 a0007c0009t0001g0001	31	398	0.0779	-12	c.29 others(23): Show c.2943_*2954delTTCCTTCCTTCC	SPEM1	ENSG00000181323.8	transcript	ENST00000323675.4	protein_coding		2916		chr17	TogoVar
SPEM2_chr17_7420616_7432568	7424547	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01192.hp1 others(27): Show HG00639.hp1 HG01175.hp2 HG01192.hp1 HG01516.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18980.hp1 NA19043.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0006t0001g0001 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0006t0001g0001 a0003c0003t0001g0001 a0004c0004t0001g0001	30	364	0.0824	-12	c.-11 others(23): Show c.-1141_-1130delTTCCTTCCTTCC	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		1068		chr17	TogoVar
SPEM3_chr17_7423857_7437820	7424547	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01192.hp2 others(27): Show HG00639.hp1 HG01175.hp2 HG01192.hp2 HG01516.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18980.hp1 NA19043.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0010 a0014	a0001c0001 a0001c0008 a0003c0003 others(4): Show a0001c0001 a0001c0008 a0003c0003 a0004c0004 a0007c0007 a0010c0012 a0014c0021	a0001c0001t0001 a0001c0008t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0008t0001 a0003c0003t0001 a0004c0004t0001 a0007c0007t0001 a0010c0012t0001 a0014c0021t0001	a0001c0001t0001g0001 a0001c0008t0001g0002 a0003c0003t0001g0001 others(4): Show a0001c0001t0001g0001 a0001c0008t0001g0002 a0003c0003t0001g0001 a0004c0004t0001g0001 a0007c0007t0001g0001 a0010c0012t0001g0001 a0014c0021t0001g0001	30	354	0.0848	-12	c.-43 others(23): Show c.-4355_-4344delTTCCTTCCTTCC	SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding		4309		chr17	TogoVar
SPEN_chr1_15842707_15945456	15860378	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0110 a0018c0020t0001g0110	1	304	0.0033	-12	c.83+ others(29): Show c.83+12257_83+12268delGTGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15892012	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0001 a0019c0024t0001	a0019c0024t0001g0304 a0019c0024t0001g0304	1	304	0.0033	-12	c.881 others(31): Show c.881+15348_881+15359delTTTTTTTTTTTT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15898173	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(59): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG01168.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02280.hp2 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18987.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2	a0003 a0005 a0021 others(1): Show a0003 a0005 a0021 a0023	a0003c0003 a0005c0011 a0021c0035 others(1): Show a0003c0003 a0005c0011 a0021c0035 a0023c0036	a0003c0003t0001 a0003c0003t0007 a0005c0011t0001 others(2): Show a0003c0003t0001 a0003c0003t0007 a0005c0011t0001 a0021c0035t0001 a0023c0036t0001	a0003c0003t0001g0109 a0003c0003t0001g0121 a0003c0003t0001g0122 others(59): Show a0003c0003t0001g0109 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0124 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0303 a0003c0003t0007g0162 a0005c0011t0001g0003 a0005c0011t0001g0159 a0005c0011t0001g0175 a0021c0035t0001g0176 a0023c0036t0001g0164	62	304	0.2040	-12	c.882 others(31): Show c.882-11122_882-11111delGTGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15926384	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0046 a0001c0015t0001g0046	1	304	0.0033	-12	c.185 others(31): Show c.1851-1689_1851-1678delCACACACACACA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG11_chr15_44557696_44668662	44633324	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00673.hp2 others(14): Show HG00408.hp1 HG00423.hp2 HG00673.hp2 HG02602.hp2 HG03927.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18971.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA19007.hp2 NA19064.hp2 NA19081.hp2 NA19085.hp1 NA21309.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 others(14): Show a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0004c0004t0001g0158 a0004c0004t0001g0171 a0004c0004t0001g0183	17	190	0.0895	-12	c.173 others(29): Show c.1735+169_1735+180delTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44636946	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19063.hp1 HG02148.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0130 a0002c0002t0001g0131	2	190	0.0105	-12	c.160 others(31): Show c.1603-3321_1603-3310delGTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44641586	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	190	0.0053	-12	c.160 others(31): Show c.1602+7268_1602+7279delGTGTGTGTGTGT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228063212	TTACCTGT others(5): Show TTACCTGTCTATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02132.hp2 NA18950.hp2 others(1): Show HG00099.hp1 HG02132.hp2 NA18950.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0143 a0001c0001t0002g0195 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0143 a0001c0001t0002g0195 a0001c0001t0002g0217	4	322	0.0124	-12	c.247 others(31): Show c.247-35681_247-35670delGATAGACAGGTA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228080765	AATAAAAT others(5): Show AATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02257.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0008 a0001c0001t0002 a0008c0008t0008	a0001c0001t0002g0207 a0001c0001t0002g0319 a0008c0008t0008g0088 others(2): Show a0001c0001t0002g0207 a0001c0001t0002g0319 a0008c0008t0008g0088 a0008c0008t0008g0096 a0008c0008t0008g0320	5	322	0.0155	-12	c.246 others(31): Show c.246+28055_246+28066delATTTTATTTTAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	ATCTCTCT others(5): Show ATCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp2 others(16): Show HG00099.hp2 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01168.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02083.hp2 HG02895.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 NA18952.hp2 NA18970.hp1 NA19084.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0011	a0001c0001 a0003c0005 a0004c0003 others(3): Show a0001c0001 a0003c0005 a0004c0003 a0005c0004 a0006c0007 a0011c0021	a0001c0001t0002 a0003c0005t0006 a0004c0003t0001 others(4): Show a0001c0001t0002 a0003c0005t0006 a0004c0003t0001 a0004c0003t0003 a0005c0004t0003 a0006c0007t0001 a0011c0021t0001	a0001c0001t0002g0063 a0001c0001t0002g0267 a0001c0001t0002g0271 others(16): Show a0001c0001t0002g0063 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0003c0005t0006g0121 a0003c0005t0006g0122 a0004c0003t0001g0269 a0004c0003t0001g0280 a0004c0003t0001g0281 a0004c0003t0001g0282 a0004c0003t0001g0283 a0004c0003t0001g0284 a0004c0003t0001g0285 a0004c0003t0003g0064 a0005c0004t0003g0277 a0005c0004t0003g0278 a0005c0004t0003g0279 a0006c0007t0001g0189 a0011c0021t0001g0275	19	322	0.0590	-12	c.139 others(29): Show c.139-4676_139-4665delGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228133306	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01109.hp1 others(9): Show HG00639.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01433.hp2 HG01517.hp2 HG02486.hp1 HG02922.hp2 HG03225.hp2 NA18967.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0005c0004 a0007c0011 a0008c0008	a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 others(3): Show a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 a0005c0004t0003 a0007c0011t0001 a0008c0008t0008	a0001c0001t0002g0204 a0001c0001t0002g0261 a0001c0001t0002g0262 others(9): Show a0001c0001t0002g0204 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0319 a0002c0002t0001g0268 a0003c0005t0001g0119 a0003c0005t0001g0260 a0005c0004t0003g0123 a0005c0004t0003g0205 a0007c0011t0001g0202 a0007c0011t0001g0203 a0008c0008t0008g0320	12	322	0.0373	-12	c.33- others(27): Show c.33-1233_33-1222delATTTATTTATTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154502	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0264 a0001c0001t0008g0264	1	322	0.0031	-12	c.33- others(29): Show c.33-22429_33-22418delTAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47356998	ACACACAC others(5): Show ACACACACTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	390	0.0026	-12	c.494 others(29): Show c.494-1464_494-1453delAGGAAGTGTGTG	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	4/4			chr11	TogoVar
SPIC_chr12_101470336_101491997	101479172	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01928.hp1 others(17): Show HG00621.hp1 HG01123.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG02129.hp1 HG02896.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03710.hp1 HG04204.hp1 NA18949.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA19002.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0112 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0112 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119	20	398	0.0503	-12	c.98- others(25): Show c.98-371_98-360delAGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479211	AGAAAGAA others(5): Show AGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03669.hp2 HG03139.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0098 a0001c0001t0001g0063 a0001c0001t0001g0098	2	398	0.0050	-12	c.98- others(25): Show c.98-359_98-348delGGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479280	AAGAAAAA others(5): Show AAGAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0273	1	398	0.0025	-12	c.98- others(25): Show c.98-300_98-289delGAAAAAGAAAGA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479307	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19005.hp1 NA18962.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0232 a0001c0001t0001g0210 a0001c0001t0001g0232	2	398	0.0050	-12	c.98- others(25): Show c.98-235_98-224delGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47331965	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp1 others(3): Show HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02723.hp1 HG02886.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0002c0002t0005 a0008c0008t0002 a0002c0002t0002 a0002c0002t0005 a0008c0008t0002	a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 others(3): Show a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0005g0022 a0008c0008t0002g0019	6	216	0.0278	-12	c.525 others(31): Show c.525+37945_525+37956delTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0001 a0002c0002t0002g0059 a0001c0001t0003g0001 a0002c0002t0002g0059	2	216	0.0093	-12	c.526 others(31): Show c.526-28003_526-27992delAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47386902	GAGATATA others(5): Show GAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03225.hp1 HG03516.hp1 others(6): Show HG00621.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18947.hp1 NA18983.hp2 NA18994.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0204 others(6): Show a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0004g0171 a0001c0001t0004g0172	9	216	0.0417	-12	c.526 others(29): Show c.526-9420_526-9409delTAGATATAGATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47459991	CTGAAAGA others(5): Show CTGAAAGAGTACT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	216	0.0046	-12	c.109 others(33): Show c.1097+19453_1097+19464delAAGAGTACTTGA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47466912	TATAGATA others(5): Show TATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp2 HG02622.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0002g0134 a0001c0001t0001g0177 a0001c0001t0002g0134	2	216	0.0093	-12	c.109 others(33): Show c.1097+26398_1097+26409delGATAGATAGATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545071	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(47): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00621.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp2 HG02735.hp2 HG02895.hp1 HG03017.hp1 HG03239.hp2 HG03654.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp1 NA18998.hp2 NA19004.hp2 NA19058.hp2 NA19066.hp1 NA19079.hp2 NA19084.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0009c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(47): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0205 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0130 a0001c0001t0002g0185 a0002c0002t0002g0124 a0003c0003t0002g0005 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0009 a0009c0010t0001g0213	50	216	0.2315	-12	c.109 others(33): Show c.1098-50700_1098-50689delCTTTCTTTCTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47582827	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp1 others(4): Show HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG03486.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0004 a0008c0008 a0002c0002 a0004c0004 a0008c0008	a0002c0002t0002 a0004c0004t0002 a0008c0008t0002 a0002c0002t0002 a0004c0004t0002 a0008c0008t0002	a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 others(4): Show a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0004c0004t0002g0122 a0004c0004t0002g0123 a0008c0008t0002g0019	7	216	0.0324	-12	c.109 others(33): Show c.1098-12952_1098-12941delCACACACACACA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG02809.hp2 others(3): Show HG01255.hp1 HG02622.hp2 HG02809.hp2 HG03654.hp2 NA18971.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0001g0188 a0001c0001t0001g0194 others(3): Show a0001c0001t0001g0113 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0002g0046 a0001c0001t0002g0138	6	216	0.0278	-12	c.109 others(31): Show c.1098-7735_1098-7724delTATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02071.hp2 HG02129.hp1 others(9): Show HG00423.hp2 HG02071.hp2 HG02129.hp1 HG02165.hp2 HG03834.hp1 HG04199.hp1 NA18943.hp1 NA18964.hp1 NA18994.hp2 NA19004.hp1 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0126 a0001c0001t0002g0144 others(9): Show a0001c0001t0002g0054 a0001c0001t0002g0126 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0161	12	216	0.0556	-12	c.154 others(33): Show c.1545-26158_1545-26147delAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47652221	AAAGGTTG others(5): Show AAAGGTTGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02886.hp1 others(9): Show HG02109.hp1 HG02258.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(9): Show a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0002g0059 a0002c0002t0002g0068	12	216	0.0556	-12	c.154 others(33): Show c.1545-21565_1545-21554delGGTTGGCAGGAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47658544	CTGTTGTT others(5): Show CTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp1 HG03579.hp1 others(1): Show HG02897.hp1 HG03516.hp1 HG03579.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 a0003c0003t0002g0006	4	216	0.0185	-12	c.154 others(33): Show c.1545-15225_1545-15214delGTTGTTGTTGTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47702087	TCTCTCTC others(5): Show TCTCTCTCTCTTA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	216	0.0046	-12	c.197 others(27): Show c.1977+74_1977+85delTCTCTCTCTTAC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr8	TogoVar

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