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
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(23): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01074.hp1 HG01123.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02602.hp1 HG02818.hp1 HG03540.hp2 HG03688.hp1 HG04184.hp2 NA18747.hp1 NA18940.hp2 NA18953.hp2 NA18960.hp2 NA18971.hp1 NA18975.hp1 NA18984.hp2 NA19055.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0077 a0001c0003t0001 a0001c0003t0024 a0002c0004t0012 a0003c0006t0017 a0003c0008t0058	a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0244 others(23): Show a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0260 a0001c0001t0001g0287 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0082 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0004g0044 a0001c0001t0005g0148 a0001c0001t0005g0201 a0001c0001t0007g0289 a0001c0001t0008g0088 a0001c0001t0011g0248 a0001c0001t0015g0297 a0001c0001t0036g0076 a0001c0001t0039g0266 a0001c0001t0043g0277 a0001c0001t0077g0073 a0001c0003t0001g0243 a0001c0003t0024g0169 a0002c0004t0012g0020 a0003c0006t0017g0130 a0003c0008t0058g0099	26	52	0.5000	26	c.957 others(41): Show c.957+955_957+980dupACACACACACACACACACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0032 a0003c0006t0032	a0003c0006t0032g0012 a0003c0006t0032g0012	1	99	0.0101	26	c.128 others(41): Show c.1282-98_1282-97insAAAAAAAAAAAAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(24): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG03942.hp1 NA18943.hp2 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18972.hp1 NA18974.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18991.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0060 others(7): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0060 a0001c0001t0091 a0001c0001t0116 a0001c0001t0141 a0001c0001t0142 a0001c0001t0149 a0001c0001t0150 a0001c0001t0175	a0001c0001t0007g0009 a0001c0001t0007g0023 a0001c0001t0007g0027 others(17): Show a0001c0001t0007g0009 a0001c0001t0007g0023 a0001c0001t0007g0027 a0001c0001t0007g0073 a0001c0001t0007g0082 a0001c0001t0007g0121 a0001c0001t0007g0125 a0001c0001t0007g0129 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0013g0075 a0001c0001t0060g0166 a0001c0001t0060g0167 a0001c0001t0091g0237 a0001c0001t0116g0286 a0001c0001t0141g0064 a0001c0001t0142g0106 a0001c0001t0149g0132 a0001c0001t0150g0067 a0001c0001t0175g0108	27	102	0.2647	26	c.71 others(35): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG01496.hp1 others(21): Show HG00609.hp1 HG01081.hp2 HG01496.hp1 HG02071.hp1 HG02148.hp2 HG02683.hp1 HG03130.hp1 HG03209.hp2 HG03688.hp2 NA18522.hp1 NA18906.hp1 NA18949.hp1 NA18975.hp2 NA18983.hp1 NA19002.hp1 NA19005.hp2 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0229 a0001c0001t0003g0176 a0001c0001t0004g0005 a0001c0001t0007g0005 a0001c0002t0001g0050 a0001c0002t0001g0051	24	57	0.4211	26	c.114 others(43): Show c.114+6463_114+6488dupATATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPCS2_chr11_74944266_74984033	74955884	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	374	0.0027	26	c.114 others(43): Show c.114+6488_114+6489insATATATATATATATATATATATCTAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(19): Show CCTCTCTCTCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0052 a0001c0001t0024g0052	1	17	0.0588	26	c.-63 others(45): Show c.-639-8247_-639-8246insAGAGAGAGAGAGAGAGGGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	17	0.0588	26	c.-63 others(45): Show c.-639-8272_-639-8247dupAGAGAGAGAGAGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	195	0.0051	26	c.-63 others(47): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00733.hp1 others(41): Show HG00423.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp2 HG01952.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02897.hp1 HG02965.hp1 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19012.hp1 NA19091.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0004 a0003c0006 a0004c0009 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0021 a0001c0005t0001 a0001c0005t0002 a0001c0014t0001 a0002c0004t0001 a0002c0004t0004 a0003c0006t0005 a0003c0006t0012 a0003c0006t0023 a0004c0009t0007 a0005c0007t0009	a0001c0001t0002g0016 a0001c0001t0002g0145 a0001c0001t0002g0147 others(41): Show a0001c0001t0002g0016 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0178 a0001c0001t0002g0197 a0001c0001t0003g0028 a0001c0001t0003g0143 a0001c0001t0003g0160 a0001c0001t0003g0179 a0001c0001t0003g0196 a0001c0001t0004g0022 a0001c0001t0004g0032 a0001c0001t0004g0042 a0001c0001t0017g0173 a0001c0002t0001g0003 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0104 a0001c0002t0001g0120 a0001c0002t0001g0136 a0001c0002t0021g0061 a0001c0005t0001g0182 a0001c0005t0002g0175 a0001c0014t0001g0091 a0002c0004t0001g0086 a0002c0004t0004g0137 a0002c0004t0004g0139 a0002c0004t0004g0176 a0003c0006t0005g0130 a0003c0006t0012g0123 a0003c0006t0023g0134 a0004c0009t0007g0198 a0005c0007t0009g0210 a0005c0007t0009g0211	44	52	0.8462	26	c.-63 others(47): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77064586	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0098 a0001c0001t0014g0098	1	67	0.0149	26	c.-25 others(37): Show c.-2513_-2512insGTGTGTGTGTGTGTGTGTGTGTGTGT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding		2029		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994386	A A	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	369	0.0027	26	c.-39 others(37): Show c.-3996_-3995insAAAGAAAGAAAGAAAGAAAGAAAGAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3510		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0047 a0003c0003t0003g0047	1	163	0.0061	26	c.-39 others(37): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAAAGA others(19): Show GAAAAAGAAAGAAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02004.hp1 HG02602.hp1 others(6): Show HG00597.hp1 HG02004.hp1 HG02602.hp1 HG03098.hp1 NA18942.hp2 NA18966.hp1 NA19009.hp2 NA19074.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0002c0002t0003 a0002c0002t0011 others(1): Show a0001c0001t0002 a0002c0002t0003 a0002c0002t0011 a0002c0006t0006	a0001c0001t0002g0106 a0002c0002t0003g0001 a0002c0002t0003g0004 others(5): Show a0001c0001t0002g0106 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0031 a0002c0002t0003g0061 a0002c0002t0011g0001 a0002c0002t0011g0004 a0002c0006t0006g0129	9	41	0.2195	26	c.-38 others(37): Show c.-3878_-3877insAAAAAGAAAGAAAGGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547841	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0135 a0001c0001t0017g0135	1	162	0.0062	26	c.-38 others(37): Show c.-3869_-3868insAAAGAAAGAAAAGAAAGAAAGAAAGA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3384		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547843	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0063 a0005c0004t0004g0063	1	164	0.0061	26	c.-38 others(37): Show c.-3867_-3866insAGAAAGAAAGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3382		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0088 a0008c0013t0002g0088	1	22	0.0455	26	c.-24 others(37): Show c.-2459_-2458insGTGTGTGTGTGTGTGTGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01515.hp1 HG01928.hp1 others(11): Show HG00408.hp2 HG01515.hp1 HG01928.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02683.hp2 HG03492.hp1 NA18946.hp1 NA18960.hp2 NA18966.hp1 NA19009.hp2 NA19068.hp2 NA19079.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0028 a0003c0003 a0013c0028	a0003c0003t0003 a0013c0028t0003 a0003c0003t0003 a0013c0028t0003	a0003c0003t0003g0003 a0003c0003t0003g0022 a0003c0003t0003g0040 others(4): Show a0003c0003t0003g0003 a0003c0003t0003g0022 a0003c0003t0003g0040 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0116 a0013c0028t0003g0112	14	18	0.7778	26	c.-36 others(37): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24421989	A A	ATAGCTCT others(19): Show ATAGCTCTAGGAATGCAGTTGGTACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0122 a0001c0002t0011g0122	1	324	0.0031	26	c.73 others(37): Show c.7366_*7367insTAGCTCTAGGAATGCAGTTGGTACGG	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		4252		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18984.hp2 HG02083.hp1 NA18984.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0059 a0004c0005t0008 a0004c0005t0059	a0004c0005t0008g0223 a0004c0005t0059g0228 a0004c0005t0008g0223 a0004c0005t0059g0228	2	39	0.0513	26	c.-22 others(45): Show c.-22+12279_-22+12280insATATATATATATATATATTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(19): Show ATTATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01433.hp1 others(7): Show HG01074.hp1 HG01358.hp2 HG01433.hp1 HG02083.hp2 HG02258.hp1 HG03834.hp2 NA18612.hp1 NA18951.hp1 NA19012.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0014 a0001c0001t0087 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0087 a0001c0001t0090 a0001c0001t0105 a0001c0010t0102	a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0135 others(7): Show a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0014g0117 a0001c0001t0087g0188 a0001c0001t0090g0151 a0001c0001t0105g0121 a0001c0010t0102g0173	10	52	0.1923	26	c.284 others(43): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02622.hp2 HG03098.hp1 others(1): Show HG01516.hp1 HG02622.hp2 HG03098.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 a0001c0001 a0001c0006 a0001c0009	a0001c0001t0015 a0001c0006t0055 a0001c0006t0064 others(1): Show a0001c0001t0015 a0001c0006t0055 a0001c0006t0064 a0001c0009t0109	a0001c0001t0015g0175 a0001c0006t0055g0014 a0001c0006t0064g0009 others(1): Show a0001c0001t0015g0175 a0001c0006t0055g0014 a0001c0006t0064g0009 a0001c0009t0109g0148	4	57	0.0702	26	c.259 others(45): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	55	0.0182	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19087.hp1 NA18975.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0082 a0001c0001t0016 a0001c0001t0082	a0001c0001t0016g0108 a0001c0001t0082g0141 a0001c0001t0016g0108 a0001c0001t0082g0141	2	56	0.0357	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02818.hp1 HG01106.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0088 a0001c0001t0006 a0001c0001t0088	a0001c0001t0006g0144 a0001c0001t0088g0183 a0001c0001t0006g0144 a0001c0001t0088g0183	2	56	0.0357	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01256.hp1 others(2): Show HG00099.hp1 HG00323.hp1 HG01256.hp1 HG03017.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0111 a0001c0001t0002g0172 a0001c0001t0002g0182 others(2): Show a0001c0001t0002g0111 a0001c0001t0002g0172 a0001c0001t0002g0182 a0001c0001t0002g0201 a0001c0001t0006g0134	5	59	0.0847	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04204.hp2 HG01496.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0086 a0001c0001t0002 a0001c0001t0086	a0001c0001t0002g0200 a0001c0001t0086g0167 a0001c0001t0002g0200 a0001c0001t0086g0167	2	56	0.0357	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0079 a0003c0004t0003g0079	1	55	0.0182	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGAGAGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(19): Show AGAGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0072 a0003c0004t0003g0072	1	55	0.0182	26	c.305 others(45): Show c.3057+1872_3057+1873insAGAGAGTGTGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGTGTG others(19): Show AGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0099 a0003c0007t0009g0099	1	55	0.0182	26	c.305 others(45): Show c.3057+1872_3057+1873insAGTGTGTGTGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CACACACA others(19): Show CACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0169 a0008c0009t0001g0169	1	109	0.0092	26	c.333 others(45): Show c.3331-2527_3331-2526insCACACACATATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG01496.hp2 others(4): Show HG00741.hp1 HG01261.hp1 HG01496.hp2 HG04115.hp1 NA18950.hp1 NA18965.hp1 NA19074.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0002 a0004c0003 a0005c0004 others(1): Show a0002c0002 a0004c0003 a0005c0004 a0006c0007	a0002c0002t0001 a0004c0003t0001 a0005c0004t0003 others(1): Show a0002c0002t0001 a0004c0003t0001 a0005c0004t0003 a0006c0007t0001	a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0199 others(4): Show a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0199 a0004c0003t0001g0166 a0004c0003t0001g0229 a0005c0004t0003g0225 a0006c0007t0001g0201	7	26	0.2692	26	c.139 others(43): Show c.139-4690_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01257.hp2 others(10): Show HG00609.hp2 HG00642.hp1 HG01257.hp2 HG02056.hp1 HG02145.hp2 HG02293.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG03130.hp2 HG03540.hp2 HG06807.hp2 NA18956.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0005 a0004c0003 others(1): Show a0002c0002 a0003c0005 a0004c0003 a0005c0004	a0002c0002t0001 a0003c0005t0001 a0003c0005t0005 others(3): Show a0002c0002t0001 a0003c0005t0001 a0003c0005t0005 a0004c0003t0001 a0004c0003t0003 a0005c0004t0003	a0002c0002t0001g0241 a0002c0002t0001g0256 a0003c0005t0001g0248 others(10): Show a0002c0002t0001g0241 a0002c0002t0001g0256 a0003c0005t0001g0248 a0003c0005t0001g0286 a0003c0005t0005g0086 a0003c0005t0005g0087 a0004c0003t0001g0073 a0004c0003t0001g0265 a0004c0003t0003g0238 a0005c0004t0003g0113 a0005c0004t0003g0151 a0005c0004t0003g0179 a0005c0004t0003g0234	13	172	0.0756	26	c.139 others(45): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG02055.hp1 others(9): Show HG01109.hp2 HG01175.hp1 HG02055.hp1 HG02056.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02970.hp1 HG03486.hp1 NA18906.hp1 NA19001.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0154 a0001c0001t0002g0020 a0001c0001t0002g0037 a0001c0001t0002g0157 a0001c0001t0002g0159	12	31	0.3871	26	c.-31 others(37): Show c.-3135_-3134insTATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381503	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	388	0.0026	26	c.-31 others(37): Show c.-3151_-3150insCATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2957		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113486210	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0174 a0003c0005t0004g0174	1	199	0.0050	26	c.611 others(43): Show c.611+2734_611+2735insATATATATATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47331965	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	108	0.0093	26	c.525 others(45): Show c.525+37956_525+37957insTCTCTTTTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565971	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	196	0.0051	26	c.109 others(47): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT AT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02300.hp1 HG03017.hp2 HG01081.hp2 HG02300.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0044	3	76	0.0395	26	c.109 others(47): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02486.hp2 HG01074.hp2 HG01109.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0001g0091 a0001c0001t0002g0025 a0001c0001t0002g0040	3	76	0.0395	26	c.109 others(47): Show c.1098-29818_1098-29817insATATATATATATATATATATATTT TT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	74	0.0135	26	c.109 others(47): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT TT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(19): Show CGCGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03098.hp1 others(1): Show HG02647.hp1 HG02886.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0010g0168 others(1): Show a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0010g0168 a0001c0001t0010g0170	4	126	0.0317	26	c.53- others(41): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02451.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0003 a0001c0001t0002g0004	2	124	0.0161	26	c.53- others(41): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	182	0.0055	26	c.-16 others(37): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0092 a0006c0006t0002g0092	1	74	0.0135	26	c.282 others(43): Show c.282+5440_282+5441insATATATATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123521	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0004	a0009c0010t0004g0147 a0009c0010t0004g0147	1	250	0.0040	26	c.253 others(43): Show c.2539-311_2539-310insGTGTGTATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123521	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0002 a0023c0030t0002	a0023c0030t0002g0090 a0023c0030t0002g0090	1	250	0.0040	26	c.253 others(43): Show c.2539-311_2539-310insGTGTGTGTGTATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(19): Show ATATGTATACATACATACGTACGTATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02922.hp1 others(4): Show HG02055.hp2 HG02647.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0068 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0068	7	419	0.0167	26	c.81+ others(41): Show c.81+3909_82-3918dupCATACGTACGTATGTATGTATACATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209955	T T	TATGTATA others(19): Show TATGTATACATACATACGTACATATGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp2 others(32): Show HG01069.hp1 HG01071.hp1 HG01884.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 others(15): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0172 a0002c0002t0001g0191	35	436	0.0803	26	c.81+ others(41): Show c.81+3917_81+3918insATATGCATGTATACATACATACGTAC	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209973	T T	TACATATG others(19): Show TACATATGCATGTATACATACATACGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02145.hp2 others(4): Show HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02895.hp1 HG03098.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0106 a0002c0002t0001g0107 others(3): Show a0002c0002t0001g0045 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0128	7	436	0.0161	26	c.81+ others(41): Show c.81+3917_81+3918insATATGCATGTATACATACATACGCAC	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGTGTG others(19): Show CGCGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	138	0.0072	26	c.106 others(43): Show c.106+3769_106+3770insCGTGTGTGTGTGTGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar

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