Joint Open Genome and Omics Platform (JoGo)

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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
SPAG9_chr17_50957174_51125868	51022943	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02148.hp1 HG01109.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0183 a0001c0001t0013g0180 a0001c0001t0013g0183	2	149	0.0134	24	c.784 others(41): Show c.784-1602_784-1579dupATTATTATTATTATTATTATTATT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	6/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037665	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02258.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0016 a0002c0004t0007 a0002c0004t0016	a0002c0004t0007g0009 a0002c0004t0016g0002 a0002c0004t0007g0009 a0002c0004t0016g0002	2	159	0.0126	24	c.741 others(41): Show c.741+3835_741+3836insTATATATATATATATATATATATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037685	A A	ATATATAT others(17): Show ATATATATATATATATATATATAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0196 a0002c0003t0011g0196	1	153	0.0065	24	c.741 others(41): Show c.741+3815_741+3816insACTATATATATATATATATATATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51089661	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18747.hp1 HG04228.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0018 a0001c0001t0012g0025 a0001c0001t0003g0018 a0001c0001t0012g0025	2	220	0.0091	24	c.304 others(41): Show c.304-9958_304-9957insGTATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096054	G G	GATATATA others(17): Show GATATATATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0173 a0002c0003t0008g0173	1	288	0.0035	24	c.304 others(43): Show c.304-16351_304-16350insATCACTATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAM1_chr7_123920241_123965046	123925157	C C	CTGTTTGC others(17): Show CTGTTTGCTTTGTGGTGTCATCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	386	0.0052	24	c.-51 others(33): Show c.-514_-513insTGTTTGCTTTGTGGTGTCATCTTG	SPAM1	ENSG00000106304.16	transcript	ENST00000682466.1	protein_coding		83		chr7	TogoVar
SPANXA1_chrX_141578674_141589738	141579064	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0020 a0007c0006t0004g0020	1	118	0.0085	24	c.46 others(35): Show c.4673_*4674insGAGGGAGGGAGGGAGGGAGGGAGG	SPANXA1	ENSG00000198021.8	transcript	ENST00000370519.4	protein_coding		4609		chrX	TogoVar
SPANXA2_chrX_141584708_141595762	141595376	A A	AAGGGAGG others(17): Show AAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	173	0.0116	24	c.46 others(35): Show c.4668_*4669insAGGGAGGGAGGGAGGGAGGGAGGG	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding		4615		chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0040 a0001c0002t0013g0040	1	198	0.0051	24	c.48 others(35): Show c.4840_*4841insTCTCTCTCTCTCTGTGTGTGTGTG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding		4447		chrX	TogoVar
SPAST_chr2_32058556_32162637	32080428	A A	AGATAATG others(17): Show AGATAATGTAGTTACACTATTGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(172): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0040 others(172): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0155 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0073 a0001c0001t0003g0188 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0058 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0091 a0001c0001t0007g0099 a0001c0001t0007g0165 a0001c0001t0007g0187 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0010g0106 a0001c0001t0017g0169 a0001c0001t0018g0114 a0001c0001t0020g0183 a0001c0001t0022g0018 a0001c0001t0027g0144	175	340	0.5147	24	c.416 others(41): Show c.416-7063_416-7040dupGATAATGTAGTTACACTATTGGCT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	100	0.0100	24	c.416 others(41): Show c.416-3715_416-3714insATATATATTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	100	0.0100	24	c.416 others(41): Show c.416-3715_416-3714insATATATTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATTT others(17): Show ATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	100	0.0100	24	c.416 others(41): Show c.416-3715_416-3714insATATTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA12_chr3_57055664_57080432	57070324	T T	TTAGACTA others(17): Show TTAGACTAATTCAGGGTAATTTAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG01891.hp2 others(10): Show HG01255.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03471.hp1 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0224 a0001c0001t0004g0053 a0001c0001t0004g0115 others(9): Show a0001c0001t0001g0224 a0001c0001t0004g0053 a0001c0001t0004g0115 a0001c0001t0004g0162 a0001c0001t0004g0187 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0225	13	438	0.0297	24	c.-32 others(43): Show c.-329-3042_-329-3041insTAGACTAATTCAGGGTAATTTAAG	SPATA12	ENSG00000186451.2	transcript	ENST00000334325.2	protein_coding	1/1			chr3	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02129.hp1 HG02895.hp2 others(4): Show HG01074.hp1 HG02129.hp1 HG02895.hp2 HG02897.hp1 HG03688.hp1 HG04199.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007	a0001c0001t0003 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0003 a0001c0003t0046 a0002c0007t0012	a0001c0001t0003g0227 a0001c0002t0001g0124 a0001c0002t0001g0176 others(4): Show a0001c0001t0003g0227 a0001c0002t0001g0124 a0001c0002t0001g0176 a0001c0003t0003g0225 a0001c0003t0046g0008 a0001c0003t0046g0009 a0002c0007t0012g0023	7	97	0.0722	24	c.65 others(35): Show c.6510_*6511insTATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172961069	T T	TCTTCCTT others(17): Show TCTTCCTTTCTTCCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	100	0.0100	24	c.934 others(41): Show c.934-4246_934-4245insGAAGGAAGAAAGGAAGAAAGGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	111	0.0090	24	c.759 others(41): Show c.759-8439_759-8438insAAGGGAGGGAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp2 HG01175.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0182 a0001c0001t0001g0071 a0001c0001t0001g0182	2	112	0.0179	24	c.759 others(41): Show c.759-8439_759-8438insAAAGAAGGAAGGGAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02647.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0089 a0002c0002t0001g0061 a0001c0004t0001g0089 a0002c0002t0001g0061	2	112	0.0179	24	c.759 others(41): Show c.759-8439_759-8438insAAGGAAAGAAGGAAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0127 a0004c0008t0001g0127	1	111	0.0090	24	c.759 others(41): Show c.759-8439_759-8438insAAGGAAGGAAAGAAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(17): Show CCCTCCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	111	0.0090	24	c.759 others(41): Show c.759-8439_759-8438insAAGGAAGGAAAGAAGGAAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028015	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19065.hp2 NA18950.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0137 a0001c0001t0001g0024 a0001c0001t0001g0137	2	169	0.0118	24	c.759 others(41): Show c.759-8441_759-8440insAGAAGGAAGGGAGGGAGGGAGGGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749983	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0092 a0001c0009t0019g0092	1	148	0.0068	24	c.519 others(41): Show c.519+7886_519+7887insATATATATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0243 a0001c0003t0024g0243	1	20	0.0500	24	c.519 others(41): Show c.519+7891_519+7914dupATATATATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02083.hp2 HG01361.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0001 a0001c0001t0002g0031	2	21	0.0952	24	c.519 others(41): Show c.519+7888_519+7889insCTCTCTATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	20	0.0500	24	c.519 others(41): Show c.519+7888_519+7889insCTCTCTCTATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0068 a0001c0001t0005g0052 a0001c0001t0005g0068	2	21	0.0952	24	c.519 others(41): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03704.hp2 HG02895.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0056 a0001c0003t0001 a0001c0001t0056 a0001c0003t0001	a0001c0001t0056g0075 a0001c0003t0001g0215 a0001c0001t0056g0075 a0001c0003t0001g0215	2	21	0.0952	24	c.519 others(41): Show c.519+7888_519+7889insCTCTCTCTCTCTATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0222 a0001c0003t0003g0222	1	20	0.0500	24	c.519 others(41): Show c.519+7888_519+7889insCTCTCTCTCTCTCTATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(17): Show TTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18939.hp2 NA18957.hp2 others(4): Show HG02004.hp2 NA18939.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0011 a0001c0002t0017 a0001c0003t0003	a0001c0001t0002g0170 a0001c0001t0010g0043 a0001c0002t0001g0147 others(4): Show a0001c0001t0002g0170 a0001c0001t0010g0043 a0001c0002t0001g0147 a0001c0002t0001g0179 a0001c0002t0011g0198 a0001c0002t0017g0151 a0001c0003t0003g0222	7	42	0.1667	24	c.872 others(41): Show c.872+4468_872+4491dupTTCTTCTTCTTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 NA18950.hp2 HG02896.hp1 HG02897.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0144	3	118	0.0254	24	c.329 others(41): Show c.329+3604_329+3627dupTTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(22): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG01934.hp2 HG02083.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG03195.hp1 HG03710.hp2 HG04199.hp1 NA18612.hp1 NA18952.hp2 NA18966.hp1 NA18969.hp1 NA18979.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19072.hp2 NA19091.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0085 a0003c0003t0001g0003 a0001c0001t0001g0003 a0001c0001t0001g0085 a0003c0003t0001g0003	25	61	0.4098	24	c.293 others(37): Show c.293+42_293+65dupTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34886834	G G	GTATCTAT others(17): Show GTATCTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19058.hp2 NA18967.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0001	2	163	0.0123	24	c.25 others(35): Show c.2529_*2530insGATAGATAGATAGATAGATAGATA	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding		2231		chr9	TogoVar
SPATA48_chr7_50090883_50164256	50100812	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp2 HG02630.hp1 others(5): Show HG00735.hp1 HG01981.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG03209.hp1 NA18964.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 others(5): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0126 a0002c0002t0001g0036 a0002c0002t0003g0241 a0002c0002t0003g0244	8	21	0.3810	24	c.554 others(41): Show c.554-3492_554-3469dupAATAAATAAATAAATAAATAAATA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50125115	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0306 a0002c0010t0001g0306	1	142	0.0070	24	c.652 others(41): Show c.652-4601_652-4600insTATATATATATATATATACACACA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG02602.hp1 others(6): Show HG00438.hp1 HG02074.hp1 HG02602.hp1 HG02698.hp2 HG03225.hp2 HG03471.hp2 HG03654.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0073	a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0001t0002g0056 others(6): Show a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0004g0239 a0001c0001t0005g0027 a0001c0001t0073g0076	9	75	0.1200	24	c.186 others(45): Show c.1869+13607_1869+13608insGTGTGTGTATGTGTGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123131911	G G	GTTAATAA others(17): Show GTTAATAACATTTTATATTCATTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(74): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG03017.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18992.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061 a0003c0003t0001	a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 others(74): Show a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0072 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0017g0184 a0001c0001t0019g0210 a0001c0001t0036g0153 a0001c0001t0037g0154 a0001c0001t0039g0248 a0001c0001t0040g0109 a0001c0001t0043g0236 a0001c0001t0044g0215 a0001c0001t0045g0183 a0001c0001t0046g0225 a0001c0001t0047g0029 a0001c0001t0057g0226 a0001c0001t0061g0237 a0003c0003t0001g0010 a0003c0003t0001g0011	77	260	0.2962	24	c.234 others(45): Show c.2340+41206_2340+41207insTTAATAACATTTTATATTCATTCA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123132597	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0166 a0002c0002t0007g0166	1	137	0.0073	24	c.234 others(45): Show c.2340+41910_2340+41911insATATATATATATATATATATATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4600483	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG02056.hp1 others(5): Show HG00639.hp1 HG01346.hp1 HG02056.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0060 a0001c0001t0011 a0002c0002t0060	a0001c0001t0011g0020 a0001c0001t0011g0093 a0001c0001t0011g0108 others(5): Show a0001c0001t0011g0020 a0001c0001t0011g0093 a0001c0001t0011g0108 a0001c0001t0011g0129 a0001c0001t0011g0220 a0001c0001t0011g0245 a0001c0001t0011g0286 a0002c0002t0060g0365	8	228	0.0351	24	c.32 others(33): Show c.327_*328insCTCTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3696		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp1 NA18963.hp2 others(2): Show HG00733.hp1 HG01496.hp1 NA18963.hp2 NA19003.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0008 a0002c0002t0007 a0003c0003t0005 a0001c0004t0008 a0002c0002t0007 a0003c0003t0005	a0001c0004t0008g0309 a0002c0002t0007g0382 a0003c0003t0005g0045 others(2): Show a0001c0004t0008g0309 a0002c0002t0007g0382 a0003c0003t0005g0045 a0003c0003t0005g0161 a0003c0003t0005g0287	5	131	0.0382	24	c.352 others(39): Show c.352-602_352-601insTATATATATATATATACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384344	C C	CAGGGAGA others(17): Show CAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	263	0.0038	24	c.909 others(39): Show c.909+964_909+965insCTCCCTCTCCCTCTCCCTCTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384350	C C	CAGGGACA others(17): Show CAGGGACAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0206 a0001c0001t0009g0206	1	72	0.0139	24	c.909 others(39): Show c.909+958_909+959insCTCCCTCTCCCTCTCCCTGTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46165584	C C	CCCTTAGC others(17): Show CCCTTAGCCTCTCCTATAGAAACCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	250	0.0040	24	c.544 others(41): Show c.544+2723_544+2724insAGGTTTCTATAGGAGAGGCTAAGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	3/4			chr21	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0140	1	135	0.0074	24	c.39+ others(39): Show c.39+6751_39+6752insAAAAAAAAAATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	135	0.0074	24	c.39+ others(39): Show c.39+6751_39+6752insAAAAAAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200403836	T T	TCAAGGTC others(17): Show TCAAGGTCATTTCCTATCTCATTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02647.hp1 others(4): Show HG01884.hp1 HG01891.hp2 HG02647.hp1 HG02922.hp2 HG03139.hp1 HG03540.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0009	a0001c0001t0010 a0001c0001t0059 a0001c0002t0013 others(3): Show a0001c0001t0010 a0001c0001t0059 a0001c0002t0013 a0001c0002t0081 a0002c0004t0019 a0004c0009t0003	a0001c0001t0010g0071 a0001c0001t0059g0026 a0001c0002t0013g0138 others(4): Show a0001c0001t0010g0071 a0001c0001t0059g0026 a0001c0002t0013g0138 a0001c0002t0081g0137 a0002c0004t0019g0131 a0002c0004t0019g0135 a0004c0009t0003g0084	7	298	0.0235	24	c.40- others(39): Show c.40-8472_40-8449dupAGGTCATTTCCTATCTCATTTCCA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00735.hp1 others(25): Show HG00423.hp1 HG00423.hp2 HG00735.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02647.hp2 HG02723.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 NA18954.hp1 NA18967.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18994.hp2 NA19060.hp1 NA19070.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0040 a0001c0003t0003 a0001c0003t0024 a0001c0003t0038 a0002c0004t0012 a0002c0004t0019	a0001c0001t0001g0251 a0001c0001t0001g0288 a0001c0001t0002g0157 others(25): Show a0001c0001t0001g0251 a0001c0001t0001g0288 a0001c0001t0002g0157 a0001c0001t0002g0209 a0001c0001t0002g0215 a0001c0001t0002g0235 a0001c0001t0002g0252 a0001c0001t0002g0268 a0001c0001t0003g0120 a0001c0001t0004g0023 a0001c0001t0004g0031 a0001c0001t0004g0036 a0001c0001t0004g0045 a0001c0001t0006g0046 a0001c0001t0007g0172 a0001c0001t0007g0218 a0001c0001t0009g0153 a0001c0001t0011g0205 a0001c0001t0014g0134 a0001c0001t0020g0118 a0001c0001t0040g0197 a0001c0003t0003g0119 a0001c0003t0024g0242 a0001c0003t0038g0168 a0002c0004t0012g0098 a0002c0004t0012g0101 a0002c0004t0012g0132 a0002c0004t0019g0285	28	54	0.5185	24	c.957 others(39): Show c.957+957_957+980dupACACACACACACACACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	26	0.0385	24	c.703 others(41): Show c.703+1137_703+1138insAATATATATATATATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp1 others(45): Show HG00408.hp1 HG00408.hp2 HG00733.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp2 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02723.hp1 HG02818.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG04115.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19074.hp1 NA19076.hp1 NA19081.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 others(21): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0049 a0001c0001t0063 a0001c0001t0075 a0001c0001t0086 a0001c0001t0090 a0001c0001t0103 a0001c0001t0108 a0001c0001t0112 a0001c0001t0130 a0001c0001t0136 a0001c0001t0137 a0001c0001t0153 a0001c0001t0159 a0001c0001t0160 a0001c0001t0179 a0001c0001t0188 a0001c0001t0196 a0002c0003t0062 a0002c0003t0181	a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0013 others(33): Show a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0081 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0004g0128 a0001c0001t0004g0188 a0001c0001t0012g0018 a0001c0001t0012g0233 a0001c0001t0012g0236 a0001c0001t0037g0051 a0001c0001t0038g0277 a0001c0001t0038g0306 a0001c0001t0044g0061 a0001c0001t0044g0076 a0001c0001t0049g0086 a0001c0001t0049g0153 a0001c0001t0063g0289 a0001c0001t0075g0206 a0001c0001t0086g0211 a0001c0001t0090g0231 a0001c0001t0103g0226 a0001c0001t0108g0228 a0001c0001t0112g0284 a0001c0001t0130g0093 a0001c0001t0136g0085 a0001c0001t0137g0062 a0001c0001t0153g0068 a0001c0001t0159g0087 a0001c0001t0160g0083 a0001c0001t0179g0071 a0001c0001t0188g0171 a0001c0001t0196g0182 a0002c0003t0062g0179 a0002c0003t0181g0164	48	123	0.3902	24	c.71 others(33): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPC25_chr2_168865891_168895430	168887421	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	175	0.0057	24	c.199 others(41): Show c.199+1804_199+1805insTTTTTTTTTTTTTTTTTTTTTTTT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar

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