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
SPDYE2B_chr7_102645319_102667625	102646923	G G	GAAAAAGA others(15): Show GAAAAAGAAAGAAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0109 a0001c0013t0023g0109	1	57	0.0175	22	c.-38 others(33): Show c.-3876_-3875insAAAAAGAAAGAAAGGAAAGAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3395		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646960	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	128	0.0078	22	c.-38 others(33): Show c.-3839_-3838insAAAGAAAGAAAGAAAGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3358		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102648345	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0005 a0002c0002t0002 a0003c0004t0005	a0002c0002t0002g0066 a0003c0004t0005g0045 a0002c0002t0002g0066 a0003c0004t0005g0045	2	23	0.0870	22	c.-24 others(33): Show c.-2454_-2453insGTGTGTGTGTGTGTGTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1973		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAAAGA others(15): Show GAAAAAGAAAGAAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01928.hp1 HG03453.hp1 others(10): Show HG01192.hp1 HG01928.hp1 HG03453.hp1 HG03654.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18960.hp2 NA18972.hp2 NA18990.hp1 NA19030.hp2 NA19068.hp2 NA19074.hp2	a0002 a0006 a0018 others(1): Show a0002 a0006 a0018 a0020	a0002c0002 a0002c0006 a0006c0008 others(2): Show a0002c0002 a0002c0006 a0006c0008 a0018c0026 a0020c0025	a0002c0002t0002 a0002c0002t0003 a0002c0006t0006 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0006t0006 a0006c0008t0003 a0018c0026t0003 a0020c0025t0003	a0002c0002t0002g0086 a0002c0002t0003g0001 a0002c0002t0003g0032 others(10): Show a0002c0002t0002g0086 a0002c0002t0003g0001 a0002c0002t0003g0032 a0002c0002t0003g0085 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0006t0006g0010 a0006c0008t0003g0001 a0006c0008t0003g0091 a0018c0026t0003g0096 a0020c0025t0003g0115	13	45	0.2889	22	c.-38 others(33): Show c.-3878_-3877insAAAAAGAAAGAAAGGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102548778	C C	CACAAGCT others(15): Show CACAAGCTCTGGAGGGGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0013 a0001c0017t0001g0013	1	164	0.0061	22	c.-29 others(33): Show c.-2932_-2931insACAAGCTCTGGAGGGGAGAGAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		2447		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02451.hp2 HG00673.hp2 HG02451.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0003 a0002c0009 a0003c0003	a0002c0009t0008 a0003c0003t0002 a0002c0009t0008 a0003c0003t0002	a0002c0009t0008g0114 a0003c0003t0002g0124 a0002c0009t0008g0114 a0003c0003t0002g0124	2	23	0.0870	22	c.-24 others(33): Show c.-2459_-2458insGTGTGTGTGTGTGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0004 a0008 a0004 a0008	a0004c0005 a0008c0011 a0004c0005 a0008c0011	a0004c0005t0003 a0008c0011t0003 a0004c0005t0003 a0008c0011t0003	a0004c0005t0003g0024 a0008c0011t0003g0134 a0004c0005t0003g0024 a0008c0011t0003g0134	2	6	0.3333	22	c.-36 others(33): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270254	T T	TATACACA others(15): Show TATACACATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	307	0.0033	22	c.-87 others(31): Show c.-871_-870insATACACATATATATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		576		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0255 a0001c0001t0007g0255	1	5	0.2000	22	c.308 others(43): Show c.3087+14491_3087+14512dupTTTTTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24402130	T T	TCCCCTTC others(15): Show TCCCCTTCTCTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	324	0.0031	22	c.308 others(41): Show c.3088-9451_3088-9450insTCTTCCCCTTCCTTCCCCCTTC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(15): Show ATTATTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02615.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0088 a0001c0010t0103 a0001c0001t0088 a0001c0010t0103	a0001c0001t0088g0183 a0001c0010t0103g0102 a0001c0001t0088g0183 a0001c0010t0103g0102	2	44	0.0455	22	c.284 others(39): Show c.284-9829_284-9828insATTATTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(15): Show ATTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01361.hp2 others(7): Show HG01106.hp2 HG01175.hp1 HG01361.hp2 HG02055.hp2 HG02622.hp1 HG03139.hp1 HG03491.hp1 HG03540.hp2 HG03942.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0008t0092 a0001c0008t0099	a0001c0001t0002g0120 a0001c0001t0006g0128 a0001c0001t0006g0144 others(7): Show a0001c0001t0002g0120 a0001c0001t0006g0128 a0001c0001t0006g0144 a0001c0001t0015g0174 a0001c0001t0015g0176 a0001c0001t0028g0187 a0001c0001t0029g0122 a0001c0001t0041g0019 a0001c0008t0092g0158 a0001c0008t0099g0139	10	52	0.1923	22	c.284 others(39): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0011 a0001c0003t0052g0011	1	54	0.0185	22	c.259 others(41): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAA	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(15): Show AGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0101 a0001c0001t0096g0101	1	55	0.0182	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTG	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(15): Show AGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02273.hp2 HG04199.hp1 others(1): Show HG02055.hp2 HG02273.hp2 HG04199.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 a0001c0008t0099	a0001c0001t0002g0114 a0001c0001t0006g0006 a0001c0001t0027g0186 others(1): Show a0001c0001t0002g0114 a0001c0001t0006g0006 a0001c0001t0027g0186 a0001c0008t0099g0139	4	58	0.0690	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGTGTGTG	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(15): Show AGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02155.hp1 HG02622.hp1 others(2): Show HG01069.hp1 HG02155.hp1 HG02622.hp1 HG03540.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0029 a0001c0001t0004 a0001c0001t0028 a0001c0001t0029	a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0159 others(2): Show a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0159 a0001c0001t0028g0187 a0001c0001t0029g0122	5	59	0.0847	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTG	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(15): Show AGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19012.hp2 NA18984.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0156 a0001c0001t0004g0166 a0001c0001t0002g0156 a0001c0001t0004g0166	2	56	0.0357	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTGTGTG	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(15): Show AGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01934.hp2 HG01943.hp2 others(13): Show HG00408.hp2 HG01934.hp2 HG01943.hp2 HG02080.hp1 HG02155.hp2 NA18957.hp2 NA18966.hp1 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp2 NA19009.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0004c0015 a0001c0001 a0004c0005 a0004c0015	a0001c0001t0002 a0004c0005t0008 a0004c0005t0010 others(7): Show a0001c0001t0002 a0004c0005t0008 a0004c0005t0010 a0004c0005t0024 a0004c0005t0047 a0004c0005t0059 a0004c0005t0060 a0004c0005t0061 a0004c0005t0068 a0004c0015t0062	a0001c0001t0002g0110 a0001c0001t0002g0244 a0001c0001t0002g0245 others(13): Show a0001c0001t0002g0110 a0001c0001t0002g0244 a0001c0001t0002g0245 a0004c0005t0008g0234 a0004c0005t0008g0237 a0004c0005t0010g0225 a0004c0005t0010g0240 a0004c0005t0010g0241 a0004c0005t0024g0227 a0004c0005t0024g0236 a0004c0005t0047g0202 a0004c0005t0059g0228 a0004c0005t0060g0233 a0004c0005t0061g0229 a0004c0005t0068g0226 a0004c0015t0062g0238	16	70	0.2286	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGAGTGTGTGTGTGTG	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(15): Show AGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0089 a0003c0004t0003g0089	1	55	0.0182	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGAGTGTGTGTGTGTGTG	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(15): Show AGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01943.hp1 HG01952.hp2 others(9): Show HG01106.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02523.hp2 NA18942.hp1 NA19066.hp1 NA19080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 others(3): Show a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 a0003c0004t0021 a0003c0004t0043 a0003c0004t0071	a0003c0004t0003g0008 a0003c0004t0003g0078 a0003c0004t0003g0090 others(9): Show a0003c0004t0003g0008 a0003c0004t0003g0078 a0003c0004t0003g0090 a0003c0004t0003g0097 a0003c0004t0003g0220 a0003c0004t0009g0077 a0003c0004t0009g0092 a0003c0004t0013g0219 a0003c0004t0021g0081 a0003c0004t0021g0094 a0003c0004t0043g0085 a0003c0004t0071g0087	12	66	0.1818	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGAGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGTG others(15): Show AGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(3): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01258.hp1 HG01358.hp1 HG04204.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0009 a0003c0007t0003 a0003c0007t0013 a0003c0004t0009 a0003c0007t0003 a0003c0007t0013	a0003c0004t0009g0095 a0003c0007t0003g0074 a0003c0007t0003g0075 others(3): Show a0003c0004t0009g0095 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0091 a0003c0007t0013g0073	6	60	0.1000	22	c.305 others(41): Show c.3057+1872_3057+1873insAGAGTGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01361.hp2 HG03654.hp1 HG01175.hp1 HG01361.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0174 a0001c0001t0015g0175 a0001c0001t0015g0176 a0001c0001t0015g0174 a0001c0001t0015g0175 a0001c0001t0015g0176	3	31	0.0968	22	c.32 others(33): Show c.3215_*3216insTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751080	C C	CGTATATA others(15): Show CGTATATATATACGTATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0001 a0033c0042t0001	a0033c0042t0001g0200 a0033c0042t0001g0200	1	260	0.0038	22	c.333 others(41): Show c.3331-2544_3331-2543insGTATATATATACGTATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751094	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 NA20905.hp1 HG00639.hp2 HG02257.hp2 NA20905.hp1	a0003 a0010 a0003 a0010	a0003c0004 a0010c0013 a0003c0004 a0010c0013	a0003c0004t0001 a0010c0013t0001 a0003c0004t0001 a0010c0013t0001	a0003c0004t0001g0094 a0003c0004t0001g0097 a0010c0013t0001g0158 a0003c0004t0001g0094 a0003c0004t0001g0097 a0010c0013t0001g0158	3	219	0.0137	22	c.333 others(41): Show c.3331-2529_3331-2528insTATATATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0039 a0039	a0039c0048 a0039c0048	a0039c0048t0001 a0039c0048t0001	a0039c0048t0001g0229 a0039c0048t0001g0229	1	109	0.0092	22	c.333 others(41): Show c.3331-2527_3331-2506dupATATATATATATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15860378	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0063 a0024c0021t0001g0063	1	86	0.0116	22	c.83+ others(39): Show c.83+12247_83+12268dupGTGTGTGTGTGTGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG03225.hp1 others(1): Show HG00544.hp1 HG00621.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0017t0001g0049	4	67	0.0597	22	c.882 others(39): Show c.882-4865_882-4844dupAAAAAAAAAAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG21_chr15_64958022_64994914	64989865	G G	GCCGCCGC others(15): Show GCCGCCGCGCTCCCCCCGCCCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp2 others(13): Show HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0045 others(3): Show a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0045 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194	16	350	0.0457	22	c.-24 others(31): Show c.-247_-226dupTCGGGCGGGGGGAGCGCGGCGG	SPG21	ENSG00000090487.11	transcript	ENST00000204566.7	protein_coding	1/9	6297		chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18747.hp1 NA18969.hp2 others(2): Show HG01081.hp2 NA18747.hp1 NA18969.hp2 NA19081.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0004	a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 others(2): Show a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 a0004c0003t0002 a0005c0004t0003	a0001c0001t0002g0171 a0002c0002t0001g0190 a0004c0003t0001g0160 others(2): Show a0001c0001t0002g0171 a0002c0002t0001g0190 a0004c0003t0001g0160 a0004c0003t0002g0228 a0005c0004t0003g0233	5	24	0.2083	22	c.139 others(39): Show c.139-4686_139-4665dupGAGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG01884.hp1 others(2): Show HG01358.hp2 HG01496.hp1 HG01884.hp1 HG02559.hp1 HG02622.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0004 a0003c0005 a0005c0004	a0003c0005t0001 a0005c0004t0003 a0003c0005t0001 a0005c0004t0003	a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 others(2): Show a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0005c0004t0003g0226 a0005c0004t0003g0245	5	164	0.0305	22	c.139 others(41): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TGTTGTTG others(15): Show TGTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	6	0.1667	22	c.-22 others(33): Show c.-2209_-2208insCAACAACAACAACAACAACAAC	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02451.hp1 others(7): Show HG00738.hp1 HG01884.hp1 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp1 HG03471.hp1 NA18947.hp2 NA19005.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0147 a0001c0001t0002g0057	10	29	0.3448	22	c.-31 others(33): Show c.-3135_-3134insTATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(15): Show TAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	90	0.0111	22	c.611 others(39): Show c.611+8032_611+8033insCTTTCTTTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486156	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0338 a0002c0003t0005g0338	1	171	0.0058	22	c.611 others(39): Show c.611+2788_611+2789insATATATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486210	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18977.hp2 NA18998.hp1 others(4): Show NA18946.hp1 NA18977.hp2 NA18998.hp1 NA19080.hp1 NA19083.hp2 NA19088.hp1 NA19090.hp1	a0003 a0010 a0003 a0010	a0003c0005 a0010c0021 a0003c0005 a0010c0021	a0003c0005t0004 a0010c0021t0004 a0003c0005t0004 a0010c0021t0004	a0003c0005t0004g0109 a0003c0005t0004g0166 a0003c0005t0004g0167 others(4): Show a0003c0005t0004g0109 a0003c0005t0004g0166 a0003c0005t0004g0167 a0003c0005t0004g0168 a0003c0005t0004g0169 a0003c0005t0004g0171 a0010c0021t0004g0081	7	205	0.0341	22	c.611 others(39): Show c.611+2713_611+2734dupATATATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479271	A A	AAGAAAAG others(15): Show AAGAAAAGAAAGAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	396	0.0025	22	c.98- others(35): Show c.98-310_98-309insGAAAAGAAAGAAAAAAGAAAGA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479284	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA21309.hp2 HG01256.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0065 a0001c0001t0001g0070	2	347	0.0058	22	c.98- others(35): Show c.98-279_98-278insAAGAAAGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47565971	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	196	0.0051	22	c.109 others(43): Show c.1098-29839_1098-29818dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03540.hp1 HG02683.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0002g0042 a0001c0001t0001g0119 a0001c0001t0002g0042	2	75	0.0267	22	c.109 others(43): Show c.1098-29818_1098-29817insATATATATATATATATATATTT	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(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19004.hp2 NA19056.hp2 HG00621.hp2 NA19004.hp2 NA19056.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0009c0010t0001 a0001c0001t0001 a0001c0001t0002 a0009c0010t0001	a0001c0001t0001g0099 a0001c0001t0002g0056 a0009c0010t0001g0213 a0001c0001t0001g0099 a0001c0001t0002g0056 a0009c0010t0001g0213	3	76	0.0395	22	c.109 others(43): Show c.1098-29818_1098-29817insATATATATATATATATATTTTT	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(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03831.hp2 NA18974.hp1 HG01943.hp2 HG03831.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0002g0049 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0002g0049	3	76	0.0395	22	c.109 others(43): Show c.1098-29818_1098-29817insATATATATATATATATTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03017.hp1 HG02056.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0093 a0001c0001t0001g0116	2	27	0.0741	22	c.154 others(43): Show c.1545-26168_1545-26147dupAGAGAGAGAGAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647641	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0019 a0008c0008t0002g0019	1	213	0.0047	22	c.154 others(43): Show c.1545-26147_1545-26146insAGAGAGAGGGAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47740915	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	56	0.0179	22	c.54 others(33): Show c.5465_*5466insAAAAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding		4610		chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(15): Show CGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG03540.hp1 others(1): Show HG01109.hp1 HG02630.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0167 others(1): Show a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0172	4	126	0.0317	22	c.53- others(37): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTG	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(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	123	0.0081	22	c.53- others(37): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTG	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0030 a0001c0001t0001g0013 a0001c0001t0002g0030	2	183	0.0109	22	c.-16 others(33): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK13_chr5_148263794_148291255	148290710	A A	AAAGTGAA others(15): Show AAAGTGAAGAAACTCTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	374	0.0027	22	c.46 others(33): Show c.4662_*4663insAAGTGAAGAAACTCTCTTCCTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		4456		chr5	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	10	0.1000	22	c.-23 others(33): Show c.-2351_-2350insTGTGTGTGTGTGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0081 a0003c0018t0002g0081	1	74	0.0135	22	c.282 others(39): Show c.282+5419_282+5440dupATATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar

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