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
SPICE1_chr3_113437718_113520156	113519029	GGAGAAAG others(3): Show GGAGAAAGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	364	0.0028	-10	c.-41 others(21): Show c.-4143_-4134delAGCCTTTCTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding		3874		chr3	TogoVar
SPIDR_chr8_47255938_47741306	47277313	TTGTTATG others(3): Show TTGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00621.hp2 others(74): Show HG00323.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18954.hp1 NA18966.hp2 NA18983.hp2 NA18998.hp1 NA19004.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19079.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0006c0005t0001 a0008c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0069 a0001c0001t0001g0070 others(74): Show a0001c0001t0001g0013 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0003g0001 a0001c0001t0006g0048 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0068 a0002c0002t0002g0124 a0003c0003t0002g0008 a0003c0003t0002g0009 a0004c0004t0002g0120 a0004c0004t0002g0121 a0006c0005t0001g0167 a0008c0008t0002g0019	77	216	0.3565	-10	c.34- others(25): Show c.34-2492_34-2483delGTTATGTTAT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03516.hp2 HG01346.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0111 a0002c0002t0001g0061 a0001c0001t0001g0111 a0002c0002t0001g0061	2	216	0.0093	-10	c.526 others(29): Show c.526-28001_526-27992delAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47386904	GATATAGA others(3): Show GATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01099.hp1 others(58): Show HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18954.hp1 NA18966.hp2 NA18971.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0002t0005 a0003c0003t0002 a0008c0008t0002	a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0071 others(58): Show a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0209 a0001c0001t0003g0004 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0068 a0002c0002t0005g0022 a0003c0003t0002g0005 a0003c0003t0002g0007 a0008c0008t0002g0019	61	216	0.2824	-10	c.526 others(27): Show c.526-9470_526-9461delTATAGATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47386906	TATAGATA others(3): Show TATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	216	0.0046	-10	c.526 others(27): Show c.526-9466_526-9457delGATATAGATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47393673	TTTTCCTT others(3): Show TTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00733.hp1 others(26): Show HG00438.hp2 HG00621.hp1 HG00733.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18966.hp1 NA18974.hp2 NA18998.hp2 NA19004.hp2 NA19056.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0011 a0007c0009 others(1): Show a0001c0001 a0001c0011 a0007c0009 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0002 a0007c0009t0001 a0009c0010t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 others(26): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0072 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0152 a0001c0001t0002g0191 a0001c0001t0003g0004 a0001c0011t0002g0139 a0007c0009t0001g0173 a0009c0010t0001g0213	29	216	0.1343	-10	c.526 others(27): Show c.526-2650_526-2641delTCCTTTCCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47458323	GTATTTTA others(3): Show GTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG01123.hp1 others(35): Show HG00408.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01943.hp2 HG01978.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp1 NA18943.hp1 NA18964.hp1 NA18994.hp2 NA19004.hp1 NA19030.hp2 NA19066.hp2 NA19084.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0009 others(1): Show a0001c0001 a0002c0002 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0007c0009t0001 a0008c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0077 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0002g0126 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0068 a0002c0002t0005g0022 a0007c0009t0001g0173 a0008c0008t0002g0019	38	216	0.1759	-10	c.109 others(31): Show c.1097+17841_1097+17850delTTATTTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47464113	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 others(1): Show a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123	4	216	0.0185	-10	c.109 others(31): Show c.1097+23605_1097+23614delCACACACACA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47466914	TAGATAGA others(3): Show TAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	216	0.0046	-10	c.109 others(31): Show c.1097+26374_1097+26383delGATAGATAGA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47483138	GTTTGTTT others(3): Show GTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00621.hp1 others(30): Show HG00323.hp1 HG00408.hp2 HG00621.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG03490.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18947.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp2 NA18987.hp2 NA18994.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0006c0005t0001 a0001c0001t0001 a0001c0001t0002 a0006c0005t0001	a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0001g0168 others(30): Show a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0191 a0001c0001t0002g0209 a0006c0005t0001g0167 a0006c0005t0001g0192	33	216	0.1528	-10	c.109 others(31): Show c.1097+42619_1097+42628delTGTTTTGTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47493036	AGAGTGAG others(3): Show AGAGTGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02965.hp2 others(6): Show HG02257.hp1 HG02559.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0131 others(6): Show a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0152 a0001c0001t0003g0001 a0002c0002t0001g0062	9	216	0.0417	-10	c.109 others(31): Show c.1097+52496_1097+52505delAGTGAGTGTG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545109	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG03486.hp1 others(2): Show HG01081.hp2 HG01109.hp2 HG03486.hp1 HG03831.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0040 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0053 a0004c0004t0002g0123	5	216	0.0232	-10	c.109 others(31): Show c.1098-50700_1098-50691delCTTTCTTTCT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545111	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	216	0.0046	-10	c.109 others(31): Show c.1098-50696_1098-50687delCTTTCTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47582827	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02723.hp2 HG02965.hp1 HG01928.hp1 HG02723.hp2 HG02965.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0038 a0004c0004t0002g0120 a0004c0004t0002g0121 a0001c0001t0002g0038 a0004c0004t0002g0120 a0004c0004t0002g0121	3	216	0.0139	-10	c.109 others(31): Show c.1098-12950_1098-12941delCACACACACA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47582861	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03239.hp1 NA20805.hp1 HG00733.hp1 HG03239.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0137	3	216	0.0139	-10	c.109 others(31): Show c.1098-12948_1098-12939delCACACACATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01123.hp1 others(10): Show HG01081.hp1 HG01109.hp1 HG01123.hp1 HG02145.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp1 HG03942.hp1 NA18522.hp2 NA18974.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0004 a0001c0001 a0001c0011 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 a0004c0004t0002	a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0011t0002g0139 a0004c0004t0002g0121	13	216	0.0602	-10	c.109 others(29): Show c.1098-7733_1098-7724delTATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0123 a0004c0004t0002g0120 a0004c0004t0002g0123	2	216	0.0093	-10	c.154 others(31): Show c.1545-32925_1545-32916delTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02886.hp2 others(8): Show HG02622.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03654.hp2 NA18954.hp2 NA18983.hp2 NA18987.hp1 NA19030.hp1 NA19056.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0001c0001t0001 a0001c0001t0002 a0002c0002t0005	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0177 others(8): Show a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0002g0050 a0001c0001t0002g0052 a0002c0002t0005g0022	11	216	0.0509	-10	c.154 others(31): Show c.1545-26156_1545-26147delAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647645	AGAGAGAG others(3): Show AGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	216	0.0046	-10	c.154 others(31): Show c.1545-26146_1545-26137delGGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47702088	CTCTCTCT others(3): Show CTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG03453.hp2 others(1): Show HG02615.hp1 HG02723.hp2 HG03453.hp2 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0002 a0001c0001t0003 a0004c0004t0002	a0001c0001t0003g0001 a0004c0004t0002g0121 a0004c0004t0002g0122 others(1): Show a0001c0001t0003g0001 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123	4	216	0.0185	-10	c.197 others(25): Show c.1977+74_1977+83delTCTCTCTCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	14/19			chr8	TogoVar
SPIDR_chr8_47255938_47741306	47702089	TCTCTCTC others(3): Show TCTCTCTCTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG02129.hp1 others(13): Show HG00423.hp2 HG01243.hp1 HG02129.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03834.hp1 NA18943.hp1 NA18964.hp1 NA18994.hp2 NA19066.hp2 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0126 a0001c0001t0002g0143 others(13): Show a0001c0001t0001g0069 a0001c0001t0002g0126 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161	16	216	0.0741	-10	c.197 others(25): Show c.1977+76_1977+85delTCTCTCTTAC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47702091	TCTCTCTT others(3): Show TCTCTCTTACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02723.hp1 HG02257.hp2 HG02258.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021	3	216	0.0139	-10	c.197 others(25): Show c.1977+78_1977+87delTCTCTTACAC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47740915	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	216	0.0046	-10	c.54 others(21): Show c.5466_*5475delAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding		4610		chr8	TogoVar
SPIN1_chr9_88383444_88483694	88393445	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	176	0.0057	-10	c.-15 others(29): Show c.-159+4926_-159+4935delTTTTTTTTTT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88405997	TTGTGTGT others(3): Show TTGTGTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(38): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG00733.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp1 HG06807.hp2 NA18944.hp2 NA18953.hp2 NA18956.hp2 NA18969.hp2 NA18978.hp1 NA18998.hp2 NA19003.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0004	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(38): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0005g0011 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0011g0171 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0136	41	176	0.2330	-10	c.-15 others(31): Show c.-159+17467_-159+17476delCTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88408965	TTGTGTTT others(3): Show TTGTGTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0144 a0001c0002t0006g0144	1	176	0.0057	-10	c.-15 others(31): Show c.-158-17401_-158-17392delTTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88409954	TCCCCCTG others(3): Show TCCCCCTGTAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0081 a0001c0001t0014g0081	1	176	0.0057	-10	c.-15 others(31): Show c.-158-16421_-158-16412delGTAACCCCCT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88436754	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02622.hp2 HG02886.hp1 others(2): Show HG00140.hp2 HG02622.hp2 HG02886.hp1 HG03209.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0006	a0001c0001t0001g0147 a0001c0001t0002g0068 a0001c0001t0003g0030 others(2): Show a0001c0001t0001g0147 a0001c0001t0002g0068 a0001c0001t0003g0030 a0001c0001t0005g0026 a0001c0002t0006g0143	5	176	0.0284	-10	c.52+ others(27): Show c.52+10182_52+10191delTTTTTTTTTT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88481594	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0173	1	176	0.0057	-10	c.63 others(21): Show c.6318_*6327delAAAAAAAAAA	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding		2901		chr9	TogoVar
SPINDOC_chr11_63808456_63832716	63814456	TTGGGAGG others(3): Show TTGGGAGGGGA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	392	0.0026	-10	c.127 others(25): Show c.127+651_127+660delGGATGGGAGG	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPINK13_chr5_148263794_148291255	148281744	CAGTTTTA others(3): Show CAGTTTTAATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	376	0.0053	-10	c.109 others(25): Show c.109-349_109-340delAGTTTTAATA	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK2_chr4_56804861_56826701	56805163	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02258.hp2 HG02735.hp2 others(9): Show HG01358.hp2 HG02258.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03491.hp1 HG03927.hp2 NA18954.hp1 NA18987.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0156 a0002c0002t0002g0022 a0002c0002t0002g0210 a0002c0002t0002g0211	12	428	0.0280	-10	c.49 others(21): Show c.4966_*4975delTTTTTTTTTT	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		4697		chr4	TogoVar
SPINK5_chr5_148058980_148142382	148069471	GAGAGAGA others(3): Show GAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp2 HG02451.hp2 HG03453.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0032 a0001c0001 a0008c0032	a0001c0001t0001 a0008c0032t0002 a0001c0001t0001 a0008c0032t0002	a0001c0001t0001g0033 a0008c0032t0002g0034 a0001c0001t0001g0033 a0008c0032t0002g0034	2	384	0.0052	-10	c.82- others(23): Show c.82-829_82-820delAGAGAGAAAG	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148073814	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp2 others(3): Show HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp1 HG02970.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0004 a0001c0001t0001 a0009c0010t0004	a0001c0001t0001g0246 a0009c0010t0004g0142 a0009c0010t0004g0143 others(3): Show a0001c0001t0001g0246 a0009c0010t0004g0142 a0009c0010t0004g0143 a0009c0010t0004g0144 a0009c0010t0004g0145 a0009c0010t0004g0147	6	384	0.0156	-10	c.282 others(27): Show c.282+1633_282+1642delCACACACACA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148118354	TCTTACTC others(3): Show TCTTACTCAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0340 a0005c0005t0002g0340	1	384	0.0026	-10	c.211 others(25): Show c.2113-80_2113-71delTACTCAGACT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123511	CAATATAT others(3): Show CAATATATGTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp1 others(14): Show HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 NA18612.hp1 NA18944.hp1 NA18950.hp1 NA18965.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19054.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0017c0017 a0002c0002 a0017c0017	a0002c0002t0003 a0017c0017t0008 a0002c0002t0003 a0017c0017t0008	a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 others(11): Show a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0031 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0269 a0017c0017t0008g0135 a0017c0017t0008g0136	17	384	0.0443	-10	c.253 others(27): Show c.2539-321_2539-312delAATATATGTG	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32			chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123521	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0086 a0011c0019t0002g0086	1	384	0.0026	-10	c.253 others(27): Show c.2539-291_2539-282delTATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210048	ATATATGT others(3): Show ATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	438	0.0023	-10	c.82- others(25): Show c.82-3848_82-3839delATGTATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38259639	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	400	0.0025	-10	c.-52 others(21): Show c.-5253_-5244delTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4933		chr19	TogoVar
SPINT3_chr20_45507461_45520622	45508617	CTTCCCTT others(3): Show CTTCCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	454	0.0022	-10	c.40 others(21): Show c.4024_*4033delAGGAAGGGAA	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3843		chr20	TogoVar
SPINT3_chr20_45507461_45520622	45508627	TTTCCCTT others(3): Show TTTCCCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG01258.hp1 others(30): Show HG00597.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG02055.hp2 HG02572.hp1 HG02698.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18970.hp2 NA18972.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18994.hp2 NA19009.hp2 NA19030.hp1 NA19077.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0003	a0001c0001t0002g0001 a0001c0001t0003g0006 a0002c0002t0001g0002 others(6): Show a0001c0001t0002g0001 a0001c0001t0003g0006 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0034 a0003c0003t0003g0008 a0003c0003t0003g0019	33	454	0.0727	-10	c.40 others(21): Show c.4014_*4023delGGGAAGGGAA	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3833		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12476541	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	328	0.0031	-10	c.140 others(29): Show c.1404+3148_1404+3157delTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12476556	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19009.hp2 NA18991.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0204 a0001c0001t0001g0035 a0001c0001t0001g0204	2	328	0.0061	-10	c.140 others(29): Show c.1404+3133_1404+3142delATTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12568878	GGTGATCC others(3): Show GGTGATCCAGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00609.hp1 others(35): Show HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01069.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG02004.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG04204.hp2 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18975.hp1 NA19000.hp2 NA19009.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0003 a0001c0001t0010 a0001c0001t0033 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0033 a0002c0009t0003	a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 others(35): Show a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0010g0291 a0001c0001t0010g0309 a0001c0001t0010g0310 a0001c0001t0033g0313 a0002c0009t0003g0323	38	328	0.1159	-10	c.373 others(29): Show c.373-21984_373-21975delGCTGGATCAC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12579190	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02976.hp2 HG03098.hp2 HG02895.hp1 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0030 a0001c0001t0003 a0001c0001t0017 a0001c0001t0030	a0001c0001t0003g0271 a0001c0001t0017g0274 a0001c0001t0030g0275 a0001c0001t0003g0271 a0001c0001t0017g0274 a0001c0001t0030g0275	3	328	0.0092	-10	c.373 others(29): Show c.373-32296_373-32287delATGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12597157	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 others(6): Show HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01516.hp1 HG02486.hp2 HG02922.hp1 HG03017.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0006g0033 others(6): Show a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0038 a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047	9	328	0.0274	-10	c.372 others(29): Show c.372+37895_372+37904delGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12607596	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01261.hp1 others(7): Show HG00741.hp1 HG01255.hp1 HG01261.hp1 HG01516.hp2 HG02027.hp2 HG02615.hp2 NA18947.hp1 NA18977.hp1 NA18998.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0028 a0001c0001t0002 a0001c0001t0020 a0001c0001t0028	a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0002g0199 others(7): Show a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0002g0199 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0020g0248 a0001c0001t0028g0080	10	328	0.0305	-10	c.372 others(29): Show c.372+27456_372+27465delGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12654336	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00609.hp1 others(57): Show HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18975.hp1 NA19000.hp2 NA19009.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(10): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0003 a0001c0002t0010 a0002c0009t0003	a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 others(57): Show a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0010g0291 a0001c0001t0010g0309 a0001c0001t0010g0310 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0013g0009 a0001c0001t0013g0011 a0001c0001t0018g0001 a0001c0001t0019g0005 a0001c0001t0031g0269 a0001c0001t0032g0316 a0001c0001t0033g0313 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0010g0264 a0002c0009t0003g0323	60	328	0.1829	-10	c.337 others(27): Show c.337+3184_337+3193delTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	1/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12657334	TGACCTCC others(3): Show TGACCTCCGAG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG02738.hp1 others(3): Show HG01192.hp2 HG01433.hp2 HG02738.hp1 HG03239.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0002g0014 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017	6	328	0.0183	-10	c.337 others(25): Show c.337+186_337+195delCTCGGAGGTC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	1/16			chr18	TogoVar
SPNS3_chr17_4428940_4493204	4441983	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	362	0.0028	-10	c.265 others(27): Show c.265+2285_265+2294delGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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