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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNX8_chr7_2246770_2319441	2268724	T T	TGGGGGTG others(43): Show TGGGGGTGTCAGCCCCCCCGCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG04199.hp2 HG01346.hp2 HG02055.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0225 a0001c0001t0002g0302 a0001c0003t0005g0290 a0001c0001t0002g0225 a0001c0001t0002g0302 a0001c0003t0005g0290	3	354	0.0085	50	c.621 others(65): Show c.621+834_621+835insCACCTCCCTCCCGGACGGGGCGGCTGGCCG GCGGGGGGGCTGACACCCCC		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10						chr7	TogoVar
SORBS2_chr4_185580523_185817194	185796639	G G	GAGGCTGG others(43): Show GAGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(49): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01978.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02896.hp2 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA18995.hp1 NA19010.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19085.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0002c0012 a0002c0014 others(2): Show a0001c0001 a0002c0012 a0002c0014 a0006c0035 a0011c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0021 a0001c0001t0028 a0001c0001t0047 a0001c0001t0048 a0001c0001t0062 a0002c0012t0005 a0002c0014t0007 a0006c0035t0002 a0011c0030t0049	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 others(49): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0261 a0001c0001t0003g0057 a0001c0001t0003g0118 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0161 a0001c0001t0003g0176 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0004g0074 a0001c0001t0005g0042 a0001c0001t0005g0071 a0001c0001t0005g0123 a0001c0001t0005g0184 a0001c0001t0006g0064 a0001c0001t0008g0178 a0001c0001t0008g0207 a0001c0001t0009g0262 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0013g0155 a0001c0001t0013g0173 a0001c0001t0021g0060 a0001c0001t0028g0114 a0001c0001t0047g0177 a0001c0001t0048g0122 a0001c0001t0062g0127 a0002c0012t0005g0235 a0002c0014t0007g0028 a0006c0035t0002g0025 a0011c0030t0049g0121	52	309	0.1683	50	c.-23 others(71): Show c.-237+15024_-237+15025insTACTGTGACCAGGGAACAGCGTGG CCACAGAGCCCAGGCATGCCCAGCCT		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26						chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796659	T T	TCTGTGGC others(43): Show TCTGTGGCCACGCTGTTCCCTGGTCACAGTAGGGCTGGGCATGCCTGGGC G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00639.hp2 others(67): Show HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20905.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0018 a0001c0028 a0003c0021 a0007c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0046 a0001c0001t0057 a0001c0001t0058 a0001c0001t0065 a0001c0001t0075 a0001c0002t0001 a0001c0002t0014 a0001c0002t0031 a0001c0003t0011 a0001c0004t0014 a0001c0007t0004 a0001c0010t0029 a0001c0010t0038 a0001c0011t0001 a0001c0011t0003 a0001c0018t0022 a0001c0028t0005 a0003c0021t0006 a0007c0033t0069	a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0136 others(67): Show a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0195 a0001c0001t0001g0252 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0167 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0003g0115 a0001c0001t0003g0165 a0001c0001t0003g0172 a0001c0001t0003g0186 a0001c0001t0003g0210 a0001c0001t0003g0292 a0001c0001t0004g0113 a0001c0001t0004g0162 a0001c0001t0004g0203 a0001c0001t0005g0158 a0001c0001t0006g0128 a0001c0001t0006g0271 a0001c0001t0008g0111 a0001c0001t0008g0166 a0001c0001t0008g0194 a0001c0001t0008g0201 a0001c0001t0008g0209 a0001c0001t0011g0032 a0001c0001t0011g0249 a0001c0001t0012g0075 a0001c0001t0015g0208 a0001c0001t0016g0031 a0001c0001t0016g0288 a0001c0001t0017g0276 a0001c0001t0020g0046 a0001c0001t0020g0223 a0001c0001t0022g0152 a0001c0001t0023g0119 a0001c0001t0027g0039 a0001c0001t0028g0168 a0001c0001t0033g0001 a0001c0001t0046g0079 a0001c0001t0057g0035 a0001c0001t0058g0270 a0001c0001t0065g0181 a0001c0001t0075g0076 a0001c0002t0001g0190 a0001c0002t0014g0095 a0001c0002t0031g0033 a0001c0003t0011g0169 a0001c0004t0014g0037 a0001c0007t0004g0021 a0001c0010t0029g0043 a0001c0010t0038g0008 a0001c0011t0001g0059 a0001c0011t0001g0149 a0001c0011t0003g0147 a0001c0018t0022g0120 a0001c0028t0005g0034 a0003c0021t0006g0020 a0007c0033t0069g0038	70	237	0.2954	50	c.-23 others(71): Show c.-237+15004_-237+15005insCGCCCAGGCATGCCCAGCCCTACT GTGACCAGGGAACAGCGTGGCCACAG		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26						chr4	TogoVar
SOX30_chr5_157620679_157657438	157631053	A A	ATATATAT others(43): Show ATATATATACAATATATATATTTTATATATATATATACAATATATATATT T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG01891.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	2	391	0.0051	50	c.188 others(69): Show c.1881-4333_1881-4332insAAATATATATATTGTATATATATATA TAAAATATATATATTGTATATATA		SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4						chr5	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(43): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0182 a0004c0006t0004g0182	1	202	0.0050	50	c.164 others(67): Show c.1646-962_1646-913dupGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914018	G G	GAGTGTGT others(43): Show GAGTGTGTGTGTTTTTGTATGCTGTGATGTGTGTGTAAGTTGTATGTGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	408	0.0025	50	c.33 others(61): Show c.3327_*3328insAGTGTGTGTGTTTTTGTATGCTGTGATGTGTGTG TAAGTTGTATGTGTGT		SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding					2333		chr9	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGGAAAG others(43): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	115	0.0087	50	c.-58 others(59): Show c.-580_-579insAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG AAAGAAAGAAAGAG		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					404		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51096006	G G	GATATATA others(43): Show GATATATATATAGTGATATATATATATAGTGATATATATATATATAGTGA T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp2 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0194 a0001c0001t0004g0202 a0001c0001t0001g0194 a0001c0001t0004g0202	2	269	0.0074	50	c.304 others(69): Show c.304-16303_304-16302insATCACTATATATATATATATCACTAT ATATATATATCACTATATATATAT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPATA13_chr13_24155720_24312069	24190257	A A	ATATATTA others(43): Show ATATATTATTATATAACATATCATATATAATATACATTATATACCATATG G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp2 others(24): Show HG00423.hp2 HG00438.hp1 HG00597.hp2 HG01109.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02615.hp1 HG02622.hp2 HG03098.hp1 HG03209.hp2 NA18612.hp2 NA18943.hp1 NA18952.hp1 NA18979.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA19007.hp2 NA19030.hp2 NA19060.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0017	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0048 a0002c0008 a0009c0045 a0017c0034	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0061 a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0002t0070 a0001c0002t0132 a0001c0003t0003 a0001c0003t0004 a0001c0003t0027 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0004t0054 a0001c0005t0035 a0001c0005t0064 a0001c0006t0088 a0001c0048t0010 a0002c0008t0059 a0002c0008t0060 a0009c0045t0092 a0017c0034t0041	a0001c0001t0002g0092 a0001c0001t0004g0058 a0001c0001t0011g0237 others(24): Show a0001c0001t0002g0092 a0001c0001t0004g0058 a0001c0001t0011g0237 a0001c0001t0011g0259 a0001c0001t0061g0150 a0001c0002t0001g0049 a0001c0002t0007g0110 a0001c0002t0010g0323 a0001c0002t0070g0184 a0001c0002t0132g0292 a0001c0003t0003g0236 a0001c0003t0003g0262 a0001c0003t0004g0070 a0001c0003t0027g0261 a0001c0004t0001g0076 a0001c0004t0007g0084 a0001c0004t0007g0157 a0001c0004t0018g0276 a0001c0004t0054g0322 a0001c0005t0035g0079 a0001c0005t0064g0119 a0001c0006t0088g0059 a0001c0048t0010g0296 a0002c0008t0059g0050 a0002c0008t0060g0199 a0009c0045t0092g0071 a0017c0034t0041g0342	27	349	0.0774	50	c.-11 others(71): Show c.-112+29327_-112+29328insTATTATTATATAACATATCATATA TAATATACATTATATACCATATGGTA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(43): Show CATTATATAACATATGGTATATAATATATATTATTATATAACATATGTTA T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01496.hp2 others(24): Show HG00639.hp1 HG00738.hp2 HG01496.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0009 a0013 a0014 a0019 a0020	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0032 a0002c0007 a0002c0008 a0005c0010 a0009c0042 a0013c0019 a0014c0043 a0019c0036 a0020c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(23): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0001t0045 a0001c0002t0051 a0001c0002t0080 a0001c0005t0037 a0001c0006t0124 a0001c0032t0025 a0002c0007t0018 a0002c0007t0021 a0002c0007t0090 a0002c0007t0120 a0002c0007t0125 a0002c0008t0014 a0002c0008t0057 a0002c0008t0099 a0005c0010t0038 a0005c0010t0073 a0005c0010t0116 a0009c0042t0067 a0013c0019t0105 a0014c0043t0127 a0019c0036t0021 a0020c0020t0101	a0001c0001t0003g0213 a0001c0001t0004g0205 a0001c0001t0004g0210 others(24): Show a0001c0001t0003g0213 a0001c0001t0004g0205 a0001c0001t0004g0210 a0001c0001t0006g0033 a0001c0001t0029g0028 a0001c0001t0045g0018 a0001c0002t0051g0338 a0001c0002t0080g0208 a0001c0005t0037g0207 a0001c0006t0124g0034 a0001c0032t0025g0272 a0002c0007t0018g0016 a0002c0007t0021g0156 a0002c0007t0090g0057 a0002c0007t0120g0339 a0002c0007t0125g0021 a0002c0008t0014g0198 a0002c0008t0057g0114 a0002c0008t0099g0340 a0005c0010t0038g0192 a0005c0010t0073g0273 a0005c0010t0116g0196 a0009c0042t0067g0341 a0013c0019t0105g0026 a0014c0043t0127g0010 a0019c0036t0021g0072 a0020c0020t0101g0025	27	49	0.5510	50	c.-11 others(71): Show c.-112+29330_-112+29331insTATATAACATATGGTATATAATAT ATATTATTATATAACATATGTTATAT		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(43): Show CATTATATACCATATGGTATATAATATATATTATTATATACCATATGGTA T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03516.hp1 others(2): Show HG02258.hp2 HG03098.hp2 HG03516.hp1 HG06807.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0021 a0001c0002t0055 a0001c0002t0081 others(2): Show a0001c0002t0021 a0001c0002t0055 a0001c0002t0081 a0001c0005t0045 a0001c0005t0107	a0001c0002t0021g0356 a0001c0002t0055g0300 a0001c0002t0081g0061 others(2): Show a0001c0002t0021g0356 a0001c0002t0055g0300 a0001c0002t0081g0061 a0001c0005t0045g0014 a0001c0005t0107g0015	5	27	0.1852	50	c.-11 others(71): Show c.-112+29330_-112+29331insTATATACCATATGGTATATAATAT ATATTATTATATACCATATGGTATAT		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA5L1_chr15_45397336_45426415	45423083	T T	TGGAAGGC others(43): Show TGGAAGGCCGAGGCGGGCAGATCACCTAAGGTCAGGAGTTCAAGACCAAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	388	0.0026	50	c.18 others(61): Show c.1873_*1874insGGAAGGCCGAGGCGGGCAGATCACCTAAGGTCAG GAGTTCAAGACCAACC		SPATA5L1	ENSG00000171763.20	transcript	ENST00000305560.11	protein_coding					1669		chr15	TogoVar
SPECC1L_chr22_24265831_24422738	24270278	C C	CATATATA others(43): Show CATATATATATACGTATATATATATGTATATATATACATATATATATACG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	300	0.0033	50	c.-84 others(59): Show c.-847_-846insATATATATATACGTATATATATATGTATATATATAC ATATATATATACGT		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding					552		chr22	TogoVar
SPEF2_chr5_35612863_35819611	35751036	C C	CGTATATA others(43): Show CGTATATATATACACATATGTATATATATATACGTATATATATACGTATA T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG01261.hp1 HG01109.hp2 HG01168.hp2 HG01261.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0005 a0001c0002 a0001c0003 a0004c0005	a0001c0002t0001 a0001c0003t0001 a0004c0005t0001 a0001c0002t0001 a0001c0003t0001 a0004c0005t0001	a0001c0002t0001g0044 a0001c0003t0001g0133 a0004c0005t0001g0159 a0001c0002t0001g0044 a0001c0003t0001g0133 a0004c0005t0001g0159	3	231	0.0130	50	c.333 others(69): Show c.3331-2588_3331-2587insGTATATATATACACATATGTATATAT ATATACGTATATATATACGTATAT		SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36						chr5	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(43): Show GTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	55	0.0182	50	c.109 others(71): Show c.1097+17801_1097+17850dupTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK6_chr5_148198042_148220137	148212488	A A	ATATATAT others(43): Show ATATATATAAAGTATATATTTTTTATATATATATATATAAAGTATATATT T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01123.hp2 others(4): Show HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	7	164	0.0427	50	c.82- others(65): Show c.82-1414_82-1413insAAGTATATATTTTTTATATATATATATATA AAGTATATATTTTATATATA		SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(43): Show TATACACACATATATATATATATATATATATACACATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	237	0.0042	50	c.294 others(65): Show c.294-613_294-612insCACACATATATATATATATATATATATACA CATATATATATATACACATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(43): Show TATACACATATATATATATATATATATACACACATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	237	0.0042	50	c.294 others(65): Show c.294-613_294-612insCACATATATATATATATATATATACACACA TATATATATATATACACATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(43): Show TATACACATATATATATATATATATATATACACATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	237	0.0042	50	c.294 others(65): Show c.294-613_294-612insCACATATATATATATATATATATATACACA TATATATATATATACACATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(43): Show TATATACACATATATATATATATATATATACACATATATATATATATACA C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	237	0.0042	50	c.294 others(65): Show c.294-611_294-610insCACATATATATATATATATATATACACATA TATATATATATACACATATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(43): Show TATATATACACATATATATATATATATATACACATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	237	0.0042	50	c.294 others(65): Show c.294-609_294-608insCACATATATATATATATATATACACATATA TATATATATACACATATATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(43): Show TATATATACACATATATATATATATATATATACACATATATATATATACA C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0061 a0004c0005t0001g0061	1	237	0.0042	50	c.294 others(65): Show c.294-609_294-608insCACATATATATATATATATATATACACATA TATATATATACACATATATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(43): Show TATATATATACACATATATATATATATATACACATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03017.hp1 HG01109.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0043 a0002c0002t0004g0045 a0002c0002t0004g0043 a0002c0002t0004g0045	2	238	0.0084	50	c.294 others(65): Show c.294-607_294-606insCACATATATATATATATATACACATATATA TATATATACACATATATATA		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPOCK1_chr5_136970298_137504326	137230796	G G	GACATTCC others(43): Show GACATTCCATTTTCCTTTACCCAACCTCCCCAGAAAGTGACTTCTTACAA A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01099.hp2 others(50): Show HG00558.hp2 HG01099.hp1 HG01099.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02080.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19074.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0002t0001 a0001c0002t0007 a0001c0004t0006	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(50): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0063 a0001c0001t0006g0013 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0048 a0001c0001t0007g0087 a0001c0001t0008g0011 a0001c0001t0009g0069 a0001c0001t0010g0002 a0001c0001t0010g0038 a0001c0001t0011g0107 a0001c0001t0011g0115 a0001c0001t0013g0137 a0001c0001t0017g0118 a0001c0001t0017g0126 a0001c0001t0021g0068 a0001c0001t0022g0006 a0001c0001t0025g0052 a0001c0001t0028g0127 a0001c0001t0031g0152 a0001c0001t0033g0150 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0049 a0001c0002t0007g0080 a0001c0004t0006g0037	53	150	0.3533	50	c.232 others(69): Show c.232+36164_232+36213dupTTTGTAAGAAGTCACTTTCTGGGGAG GTTGGGTAAAGGAAAATGGAATGT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10						chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137230796	G G	GACATTCC others(43): Show GACATTCCATTTTCCTTTACCCAACGTCCCCAGAAAGTGACTTCTTACAA A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03041.hp2 HG01071.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0105 a0001c0001t0003g0016 a0001c0001t0002g0105 a0001c0001t0003g0016	2	99	0.0202	50	c.232 others(69): Show c.232+36213_232+36214insTTTGTAAGAAGTCACTTTCTGGGGAC GTTGGGTAAAGGAAAATGGAATGT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10						chr5	TogoVar
SPRED2_chr2_65305851_65437599	65339119	T T	TCCCGGCC others(43): Show TCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCC G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp2 HG01261.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0213 a0001c0002t0001g0138 a0001c0001t0005g0213 a0001c0002t0001g0138	2	132	0.0152	50	c.205 others(67): Show c.205-4347_205-4346insCGGGGGGCTGACCCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5						chr2	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATGTA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01255.hp1 others(4): Show HG00423.hp2 HG01109.hp1 HG01255.hp1 HG02683.hp1 HG04204.hp1 NA18966.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0064 a0001c0001t0103 others(3): Show a0001c0001t0026 a0001c0001t0064 a0001c0001t0103 a0001c0001t0130 a0001c0001t0131 a0001c0001t0143	a0001c0001t0026g0049 a0001c0001t0026g0081 a0001c0001t0064g0067 others(4): Show a0001c0001t0026g0049 a0001c0001t0026g0081 a0001c0001t0064g0067 a0001c0001t0103g0051 a0001c0001t0130g0203 a0001c0001t0131g0167 a0001c0001t0143g0193	7	8	0.8750	50	c.29 others(61): Show c.2906_*2907insATATATATATATATATATATATATATATATATAT ATATGTAAATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3				2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(43): Show TTTATATATATATATATATATATATATATATATATATATATATATATGTA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp1 NA18953.hp1 NA19005.hp1 others(3): Show HG03710.hp1 NA18953.hp1 NA19005.hp1 NA19055.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0061 a0001c0001t0088 others(1): Show a0001c0001t0013 a0001c0001t0061 a0001c0001t0088 a0001c0001t0139	a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0044 others(3): Show a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0061g0135 a0001c0001t0088g0204 a0001c0001t0139g0229	6	7	0.8571	50	c.28 others(61): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATATATATATGTAA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3				2899		chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(43): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0074	1	336	0.0030	50	c.-47 others(67): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGAGAGAGAGAGAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0026 a0001c0012t0016g0026	1	136	0.0074	50	c.-47 others(67): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAAAGA GAAAGAAAGAAAGAAAGAAAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(43): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18951.hp2 HG03209.hp2 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0063 a0003c0005t0135 a0001c0002t0063 a0003c0005t0135	a0001c0002t0063g0049 a0003c0005t0135g0013 a0001c0002t0063g0049 a0003c0005t0135g0013	2	16	0.1250	50	c.490 others(67): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	AACAAAAA others(43): Show AACAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	268	0.0037	50	c.621 others(67): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTGTTTTTTTTTTTGT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRSF12_chr6_89090959_89123071	89099406	A A	ATATATAC others(43): Show ATATATACACATATATATATGTGTATATATATACACATATATATATGTGT G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG03209.hp2 HG02258.hp1 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0127 a0001c0001t0005g0040 a0001c0001t0005g0127	3	370	0.0081	50	c.417 others(65): Show c.417-460_417-459insCACACATATATATATGTGTATATATATACA CATATATATATGTGTATATA		SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding	4/4						chr6	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	190	0.0053	50	c.138 others(67): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATATATTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0078 a0003c0007t0002g0078	1	190	0.0053	50	c.138 others(67): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	190	0.0053	50	c.138 others(67): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	190	0.0053	50	c.138 others(67): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	190	0.0053	50	c.138 others(67): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859991	G G	GGGAGGGG others(43): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAG A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	325	0.0031	50	c.-24 others(61): Show c.-2496_-2495insTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCC		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding					2409		chr12	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525795	A A	ATATATAT others(43): Show ATATATATATATATACATATATATATATATACATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03710.hp1 HG01496.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0026 a0001c0001t0027g0032 a0001c0001t0003g0026 a0001c0001t0027g0032	2	100	0.0200	50	c.624 others(71): Show c.624-101643_624-101642insCATATATATATATATACATATATA TATATATATACGTATATATATATATA		ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST8SIA6_chr10_17310421_17459595	17324754	T T	TCATGGTA others(43): Show TCATGGTATGTACCATACCATGCATGCATGGTATGTACCATACCATGCAT G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp1 HG02486.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0212 a0001c0001t0011g0213	2	282	0.0071	50	c.636 others(67): Show c.636-1598_636-1597insCATGCATGGTATGGTACATACCATGCAT GCATGGTATGGTACATACCATG		ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	6/7						chr10	TogoVar
STARD7_chr2_96179859_96213827	96192461	C C	CCACAGCA others(43): Show CCACAGCACTGGTAAGGAGGAAAGGAGAAGCAAACTCTTAGTAATGTCTA T	frameshift_variant frameshift_variant	HIGH	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0222 a0004c0009t0002g0222	1	356	0.0028	50	c.744 others(60): Show c.744-43_750dupATAGACATTACTAAGAGTTTGCTTCTCCTTTCCTC CTTACCAGTGCTGTG	p.Glu others(5): Show p.Glu251fs	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	6/8	1143/3377	750/1113	250/370			chr2	TogoVar
STARD9_chr15_42570606_42725998	42712118	A A	AATATATA others(43): Show AATATATATAATATATATATTATATATATATATATATATAATATATATAA T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0035 a0035	a0035c0036 a0035c0036	a0035c0036t0002 a0035c0036t0002	a0035c0036t0002g0025 a0035c0036t0002g0025	1	166	0.0060	50	c.132 others(71): Show c.13285-4550_13285-4549insATATATATATTATATATATATATA TATATAATATATATAATATATATATA		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(43): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	31	0.0323	50	c.210 others(67): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATTTTTTT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23						chr12	TogoVar
STAU1_chr20_49108339_49193334	49108477	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	348	0.0029	50	c.64 others(61): Show c.6400_*6401insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding					4861		chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	192	0.0052	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATA		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG00642.hp2 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	2	193	0.0104	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATA		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0303 a0002c0002t0002g0303	1	192	0.0052	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATA		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0378 a0003c0003t0008g0378	1	192	0.0052	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATA		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 HG02027.hp1 others(6): Show HG00408.hp2 HG02015.hp2 HG02027.hp1 HG03927.hp1 NA18940.hp2 NA19004.hp2 NA19062.hp1 NA19068.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0002g0079 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0002g0079 a0001c0001t0002g0132 a0002c0002t0002g0017 a0002c0002t0002g0224 a0002c0002t0002g0252 a0002c0002t0002g0264 a0002c0002t0002g0291	9	82	0.1098	50	c.762 others(69): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATATATATAT		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar

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