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
ROBO2_chr3_77035099_77654964	77164922	TCCGGGAG others(81): Show TCCGGGAGGGAGGTGGGGGCGGTCAGCCCCCCAACCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCTTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0088 a0006c0005t0002g0088	1	160	0.0063	-88	c.388 others(107): Show c.388+66584_388+66671delCGGGAGGGAGGTGGGGGCGGTCAGCC CCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCGGCCCTTAC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597541	ACACACAC others(81): Show ACACACACAACATATATATATATATATATATATACACATATATATATATA TATACACATATATATATATATATATATACATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0016 a0001c0001t0028g0016	1	118	0.0085	-88	c.197 others(107): Show c.197-65778_197-65691delATATATGTATGTATATATATATATAT ATATATGTGTATATATATATATATATGTGTATATATATATATATATATAT ATGTTGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORC_chr1_151801071_151836802	151808867	TGGAAAAC others(81): Show TGGAAAACTGGGGGAAGAACCCTCCAGGTGACTACAATAGCAGGTACAAA AGCCCTGCGACTGGGTTTGATGTGTTCGAGGAATAGCAA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	428	0.0023	-88	c.139 others(107): Show c.1396-1322_1396-1235delTTGCTATTCCTCGAACACATCAAACC CAGTCGCAGGGCTTTTGTACCTGCTATTGTAGTCACCTGGAGGGTTCTTC CCCCAGTTTTCC	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	10/10			chr1	TogoVar
SARDH_chr9_133658560_133743352	133668443	TACCCTCC others(81): Show TACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0022 a0002c0004t0001g0022	1	217	0.0046	-88	c.249 others(107): Show c.2496-1661_2496-1574delGAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGG GAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088067	AATACATA others(81): Show AATACATATACATATATGTATAAATACATATACATATTTATACATATATG TATAAATACATACATATTTATACATATATGTATAAATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(130): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0002c0006 others(3): Show a0001c0001 a0001c0002 a0002c0006 a0004c0007 a0005c0009 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0006t0001 a0004c0007t0001 a0005c0009t0001 a0007c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(127): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0003g0008 a0001c0002t0001g0197 a0001c0002t0001g0198 a0002c0006t0001g0189 a0004c0007t0001g0152 a0005c0009t0001g0082 a0007c0005t0001g0201	133	230	0.5783	-88	c.42 others(99): Show c.4236_*4323delGTATTTATACATATATGTATAAATATGTATGTAT TTATACATATATGTATAAATATGTATATGTATTTATACATATATGTATAT GTAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4216		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1146717	TGAGGGTG others(81): Show TGAGGGTGGGGGTGGGGTCCGCCTGATGCCGCAGTGGGAGGCTGTGAGGG TGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG03139.hp2 others(1): Show HG02258.hp1 HG02630.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0020 a0001c0006 a0001c0007 a0001c0020	a0001c0006t0001 a0001c0007t0001 a0001c0020t0001 a0001c0006t0001 a0001c0007t0001 a0001c0020t0001	a0001c0006t0001g0117 a0001c0006t0001g0152 a0001c0007t0001g0028 others(1): Show a0001c0006t0001g0117 a0001c0006t0001g0152 a0001c0007t0001g0028 a0001c0020t0001g0027	4	202	0.0198	-88	c.279 others(103): Show c.279+504_279+591delCCAGCCTCCCCCTTCGGCATCAGGCGGACC CCACCCCCACCCTCACAGCCTCCCACTGCGGCATCAGGCGGACCCCACCC CCACCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCARF1_chr17_1628858_1650732	1636231	GTCTGATG others(81): Show GTCTGATGACTGCCCATCTGACTCTAAGCCTGGTGAGGATAGGAATCTGT CTTGTTATCTCTTGCATGCCCGGAGCCAAGAACAGTGAC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	400	0.0025	-88	c.163 others(105): Show c.1633+390_1633+477delGTCACTGTTCTTGGCTCCGGGCATGCAA GAGATAACAAGACAGATTCCTATCCTCACCAGGCTTAGAGTCAGATGGGC AGTCATCAGA	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	10/10			chr17	TogoVar
SCCPDH_chr1_246719409_246773137	246764886	GGTATAAT others(81): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATA ATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	408	0.0049	-88	c.110 others(105): Show c.1102+617_1102+704delAGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGTGGTATAATTACTGTCAGAGACAGACAGGTCCACT TGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246764974	AGTATAAT others(81): Show AGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATA ATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(146): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0204 a0001c0001t0001g0260 a0001c0001t0002g0261 a0001c0001t0003g0074 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0002t0004g0006 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0045 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0243 a0002c0003t0001g0094 a0002c0003t0001g0099 a0002c0003t0001g0101	149	256	0.5820	-88	c.110 others(105): Show c.1102+793_1103-821delGGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGTGGTATAATTACTGTCAGAGACAGACAGGTCCACT TGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCN9A_chr2_166190185_166380944	166191645	GCATATAT others(81): Show GCATATATATATATATATATATATATATATATATATACACACACATATAT ATATATGTATATATATATATATACACACATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02818.hp1 others(2): Show HG01168.hp2 HG01169.hp2 HG02818.hp1 HG03516.hp1 HG04184.hp1	a0001 a0001	a0001c0022 a0001c0026 a0001c0022 a0001c0026	a0001c0022t0008 a0001c0026t0008 a0001c0022t0008 a0001c0026t0008	a0001c0022t0008g0108 a0001c0022t0008g0109 a0001c0022t0008g0185 others(2): Show a0001c0022t0008g0108 a0001c0022t0008g0109 a0001c0022t0008g0185 a0001c0026t0008g0124 a0001c0026t0008g0267	5	294	0.0170	-88	c.69 others(99): Show c.6939_*7026delTATATATATATGTGTGTATATATATATATATACA TATATATATATGTGTGTGTATATATATATATATATATATATATATATATA TATG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3539		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288239	CCGTGTCT others(81): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	288	0.0035	-88	c.166 others(105): Show c.1662+204_1662+291delGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289491	CCGTGTCT others(81): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0252 a0003c0004t0003g0252	1	286	0.0035	-88	c.166 others(105): Show c.1663-778_1663-691delGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289509	CCCCGTGT others(81): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0147 a0003c0004t0003g0147	1	280	0.0036	-88	c.166 others(105): Show c.1663-752_1663-665delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289948	CCGTGTCT others(81): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	284	0.0035	-88	c.166 others(105): Show c.1663-321_1663-234delGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289966	CCCCGTGT others(81): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19070.hp1 NA19072.hp1 others(1): Show NA19007.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0011 a0003c0004t0003g0006 a0003c0004t0003g0143 others(1): Show a0002c0002t0001g0011 a0003c0004t0003g0006 a0003c0004t0003g0143 a0003c0004t0003g0252	4	276	0.0145	-88	c.166 others(105): Show c.1663-295_1663-208delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290002	CCGTGTCC others(81): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0223 a0004c0008t0001g0223	1	285	0.0035	-88	c.166 others(105): Show c.1663-267_1663-180delGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281074	TCCCTTGG others(81): Show TCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0005 a0001c0035t0005	a0001c0035t0005g0208 a0001c0035t0005g0208	1	264	0.0038	-88	c.484 others(105): Show c.484+9884_484+9971delCAGGATAGCTGAGGAGGAGATGACAGAA GGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGG TGGCCAAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243327271	TTTATAAT others(81): Show TTTATAATTTTATAGAAATTAAAATTATAATTTATAATTTTATAGAAATT AAAATTATAATTATAATTTTATAGAAATTAAAATTATAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	187	0.0053	-88	c.106 others(107): Show c.1069-3219_1069-3132delAAAATTATAATTATAATTTTATAGAA ATTAAAATTATAATTATAATTTTATAGAAATTAAAATTATAATTTATAAT TTTATAGAAATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4139495	GTGTGTGT others(81): Show GTGTGTGTGTATATGTATATATGTGTGTGTATGTGTGTGTGTATATATGT GTGTGTATATGTATATATGTGTGTATATGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(43): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0010 a0011 a0012 a0020 a0026 a0027 a0028 a0030 a0031	a0001c0002 a0001c0004 a0001c0007 others(38): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0026 a0001c0034 a0001c0037 a0001c0040 a0001c0060 a0001c0061 a0001c0062 a0001c0088 a0001c0091 a0001c0093 a0001c0095 a0002c0009 a0002c0029 a0002c0030 a0002c0041 a0002c0042 a0002c0053 a0002c0054 a0002c0066 a0004c0003 a0004c0076 a0005c0056 a0005c0057 a0005c0058 a0005c0065 a0006c0077 a0010c0079 a0011c0022 a0012c0015 a0020c0063 a0026c0028 a0027c0089 a0028c0018 a0030c0086 a0031c0069	a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 others(41): Show a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 a0001c0007t0021 a0001c0008t0004 a0001c0010t0002 a0001c0011t0008 a0001c0026t0002 a0001c0034t0028 a0001c0037t0002 a0001c0040t0001 a0001c0060t0041 a0001c0061t0031 a0001c0062t0053 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0001c0095t0029 a0002c0009t0004 a0002c0009t0056 a0002c0029t0005 a0002c0030t0034 a0002c0041t0007 a0002c0042t0002 a0002c0053t0067 a0002c0054t0002 a0002c0066t0023 a0004c0003t0003 a0004c0076t0003 a0005c0056t0006 a0005c0057t0013 a0005c0058t0012 a0005c0065t0037 a0006c0077t0003 a0010c0079t0054 a0011c0022t0072 a0012c0015t0017 a0020c0063t0007 a0026c0028t0049 a0027c0089t0047 a0028c0018t0071 a0030c0086t0046 a0031c0069t0069	a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0001g0039 others(43): Show a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0007t0021g0110 a0001c0008t0004g0095 a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0026t0002g0086 a0001c0034t0028g0098 a0001c0037t0002g0077 a0001c0040t0001g0040 a0001c0060t0041g0080 a0001c0061t0031g0100 a0001c0062t0053g0042 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0066t0023g0088 a0004c0003t0003g0070 a0004c0003t0003g0072 a0004c0076t0003g0073 a0005c0056t0006g0097 a0005c0057t0013g0045 a0005c0058t0012g0063 a0005c0065t0037g0065 a0006c0077t0003g0099 a0010c0079t0054g0071 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0020c0063t0007g0106 a0026c0028t0049g0035 a0027c0089t0047g0056 a0028c0018t0071g0005 a0030c0086t0046g0012 a0031c0069t0069g0064	46	116	0.3966	-88	c.422 others(107): Show c.4229-6195_4229-6108delGTGTGTGTGTATATATGTGTGTGTAT ATGTATATATGTGTGTATATGTGTGTGTGTATGTGTGTGTATATGTATAT ATGTGTGTGTAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	28/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390056	TGTGCACA others(81): Show TGTGCACATATATGCGCGTATACGTGTGCACATATATGCGCGTATACGTG TGCACATATATGCGCGTATACGTGTGCACATATATGCGC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	217	0.0046	-88	c.166 others(107): Show c.1667+2411_1667+2498delGCGCATATATGTGCACACGTATACGC GCATATATGTGCACACGTATACGCGCATATATGTGCACACGTATACGCGC ATATATGTGCAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEPTIN8_chr5_132745819_132782239	132770061	GTGTATAT others(81): Show GTGTATATATATATATATATGTATATATGTATATATATATGTATATATGT ATATATATATATATGTATATATGTGTATGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(17): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG01167.hp1 HG02027.hp1 HG02280.hp1 HG02630.hp2 HG03017.hp2 NA18942.hp2 NA18950.hp1 NA18963.hp1 NA18971.hp2 NA18989.hp1 NA19009.hp2 NA19011.hp2 NA19066.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0001c0001t0005 a0007c0006t0001 a0001c0001t0001 a0001c0001t0005 a0007c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0093 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0223 a0001c0001t0005g0023 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0007c0006t0001g0127	20	316	0.0633	-88	c.31- others(103): Show c.31-4620_31-4533delTATACACACACATACACATATATACATATA TATATATATACATATATACATATATATATACATATATACATATATATATA TATATACA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN8_chr5_132745819_132782239	132770063	GTATATAT others(81): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTAT ATATATATATATGTATATATGTGTATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02896.hp2 others(14): Show HG02258.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA18964.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0052 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0003g0156 a0001c0001t0005g0023	17	102	0.1667	-88	c.31- others(103): Show c.31-4622_31-4535delTATATACACACACATACACATATATACATA TATATATATATACATATATACATATATATATACATATATACATATATATA TATATATA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SH3BP4_chr2_234947017_235060714	235038299	TTATATAT others(81): Show TTATATATATATATTATATATTATATATATATTATATATAGTATATATAT TTTATATATATATATATAATATATATACATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0038 a0004c0005t0002g0038	1	224	0.0045	-88	c.119 others(105): Show c.119-2575_119-2488delTATATATTATATATATATTATATATAGT ATATATATTTTATATATATATATATAATATATATACATATATATATATAT ATATATATAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHROOM2_chrX_9781429_9954443	9792058	ATAGAATA others(81): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG02015.hp1 others(7): Show HG01123.hp1 HG01243.hp1 HG02015.hp1 HG02615.hp2 HG02976.hp2 HG03831.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0016 a0033	a0001c0001 a0002c0002 a0002c0006 others(4): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0004c0065 a0016c0029 a0033c0037	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0002c0006t0002 a0003c0004t0003 a0004c0065t0010 a0016c0029t0007 a0033c0037t0014	a0001c0001t0001g0167 a0001c0001t0001g0240 a0001c0001t0018g0164 others(7): Show a0001c0001t0001g0167 a0001c0001t0001g0240 a0001c0001t0018g0164 a0002c0002t0002g0123 a0002c0002t0002g0190 a0002c0006t0002g0120 a0003c0004t0003g0166 a0004c0065t0010g0233 a0016c0029t0007g0237 a0033c0037t0014g0231	10	251	0.0398	-88	c.165 others(105): Show c.165+5349_165+5436delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(81): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 NA19060.hp1 HG00673.hp1 HG01167.hp1 NA19060.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0004c0005t0016 a0002c0003t0001 a0004c0005t0016	a0002c0003t0001g0078 a0002c0003t0001g0142 a0004c0005t0016g0169 a0002c0003t0001g0078 a0002c0003t0001g0142 a0004c0005t0016g0169	3	43	0.0698	-88	c.295 others(107): Show c.2957+9249_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIAH3_chr13_45772242_45856753	45813105	GGTCAGTA others(81): Show GGTCAGTACTGAGTCCCGGACCTGATGGGAACATGGTGAGCCTGTGTCAG TACTGAGTCCCAGACCCGGTGGGAACATGGTGAGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0102 a0001c0001t0023g0102	1	362	0.0028	-88	c.136 others(107): Show c.136-29136_136-29049delACAGGCTCACCATGTTCCCACCGGGT CTGGGACTCAGTACTGACACAGGCTCACCATGTTCCCATCAGGTCCGGGA CTCAGTACTGAC	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1096663	GGGAGGGA others(81): Show GGGAGGGAAGGAAGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGG GAGGAAGGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02451.hp2 HG03195.hp1 HG02273.hp2 HG02451.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0008 a0002c0016 a0001c0009 a0002c0008 a0002c0016	a0001c0009t0010 a0002c0008t0004 a0002c0016t0010 a0001c0009t0010 a0002c0008t0004 a0002c0016t0010	a0001c0009t0010g0081 a0002c0008t0004g0080 a0002c0016t0010g0082 a0001c0009t0010g0081 a0002c0008t0004g0080 a0002c0016t0010g0082	3	118	0.0254	-88	c.125 others(105): Show c.125-2503_125-2416delTTCCTTCCCTCCCTTCCCCCCTCCCTCC TTTCCTTCCTCCCTCCTTCCTTCCCTCCCTTCCCCCCTCCCTCCTTTCTT CCTTCCCTCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096693	AAGGGAGG others(81): Show AAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGAAGGGA GGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp2 HG02698.hp1 others(10): Show HG02040.hp2 HG02155.hp2 HG02698.hp1 HG02895.hp2 HG03491.hp1 HG03579.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18967.hp2 NA19011.hp2 NA19065.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0029 others(2): Show a0001c0001 a0001c0006 a0001c0029 a0001c0032 a0002c0016	a0001c0001t0001 a0001c0001t0018 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0006t0001 a0001c0029t0007 a0001c0032t0001 a0002c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0108 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0018g0096 a0001c0006t0001g0028 a0001c0029t0007g0012 a0001c0032t0001g0112 a0002c0016t0001g0057	13	118	0.1102	-88	c.125 others(105): Show c.125-2533_125-2446delCCCCCCCTCCCTCCTTTCCTTCCTCCCT CCTTCCTTCCCTCCCTTCCCCCCTCCCTCCTTTCCTTCCTCCCTCCTTCC TTCCCTCCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096721	AAAGGAGG others(81): Show AAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGA GGGAGGGGGGGAGGGAGGGAAGGAAGGAGGGAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0004 a0004c0033t0004	a0004c0033t0004g0072 a0004c0033t0004g0072	1	117	0.0085	-88	c.125 others(105): Show c.125-2561_125-2474delCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCCCCCCTCCCTCCTTTCCTTCCTCCCTCCTTCCTTCCCTCCCTTCCCCC CTCCCTCCTT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(81): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00621.hp2 others(27): Show HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01168.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18948.hp2 NA18955.hp1 NA18978.hp1 NA18979.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA19007.hp2 NA19043.hp2 NA19070.hp1 NA19077.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0012	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0005c0005 a0007c0016 a0012c0018	a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 a0005c0005t0001 a0007c0016t0001 a0012c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0032 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0002t0001g0102 a0001c0002t0001g0278 a0001c0002t0001g0301 a0001c0002t0001g0330 a0001c0020t0001g0272 a0005c0005t0001g0094 a0007c0016t0001g0154 a0012c0018t0001g0151	30	36	0.8333	-88	c.206 others(107): Show c.2062+1813_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAAA AAAAAAAAAAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC26A3_chr7_107760469_107808223	107796700	CTTGGATT others(81): Show CTTGGATTTCTCACAAAGGGTATCTGGAATATCTTATAAGAACAGCTTTA ATCCTTTGAAGGAACCAACCTAGCCAACCTTAGGATGAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02559.hp2 others(4): Show HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02970.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 others(4): Show a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0384 a0001c0001t0003g0372	7	434	0.0161	-88	c.-88 others(105): Show c.-88-2191_-88-2104delTTCATCCTAAGGTTGGCTAGGTTGGTTC CTTCAAAGGATTAAAGCTGTTCTTATAAGATATTCCAGATACCCTTTGTG AGAAATCCAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	1/20			chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396447	AGGGGGGG others(81): Show AGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0286 a0001c0003t0004g0286	1	297	0.0034	-88	c.-15 others(105): Show c.-15-8243_-15-8156delGGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGGGGGGGG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC43A2_chr17_1564268_1633834	1623662	GCGTACCC others(81): Show GCGTACCCTCCTCTCCTCCAGGGCGTATCCTCCTCTCCTCCAGGCTGTAC CCTCCTCTCCTCCAGGCTGTACCCTCCTCTCCTCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0283 a0001c0002t0003g0284	2	380	0.0053	-88	c.160 others(105): Show c.160+3965_160+4052delGCCTGGAGGAGAGGAGGGTACAGCCTGG AGGAGAGGAGGGTACAGCCTGGAGGAGAGGAGGATACGCCCTGGAGGAGA GGAGGGTACG	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	2/13			chr17	TogoVar
SLC9A3_chr5_465456_529449	497701	ATCTGCCC others(81): Show ATCTGCCCCTGTCCTGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGC CCCTGTCCCGGGTGGGGTCGCCCGGCCGCATCCCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01074.hp2 others(11): Show HG00642.hp1 HG00642.hp2 HG01074.hp2 HG01109.hp2 HG01257.hp2 HG01358.hp1 HG02004.hp2 HG02071.hp1 HG02148.hp1 HG02300.hp2 NA18990.hp2 NA19057.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0027 a0002c0002 others(1): Show a0001c0001 a0001c0027 a0002c0002 a0010c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0027t0007 a0002c0002t0002 a0010c0015t0007	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0004g0027 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0012g0182 a0001c0027t0007g0136 a0002c0002t0002g0019 a0002c0002t0002g0020 a0010c0015t0007g0004	14	140	0.1000	-88	c.212 others(105): Show c.212-5718_212-5631delGGCTGGGGATGCGGCCGGGCGACCCCAC CCGGGACAGGGGCAGAGGCTGGGGATGCGGCCGGGCGACCCCACCCAGGA CAGGGGCAGA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	497715	TGGGTGGG others(81): Show TGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTG GGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	191	0.0052	-88	c.212 others(105): Show c.212-5732_212-5645delGGGACAGGGGCAGAGGCTGGGGATGCGG CCGGGCGACCCCACCCGGGACAGGGGCAGAGGCTGGGGATGCGGCCGGGC GACCCCACCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047375	ACAAATAT others(81): Show ACAAATATATATATAATATATAAATATATATACAAATATATATATAATAT ATAAATATATATACAAATATATAATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	183	0.0055	-88	c.647 others(107): Show c.647-47505_647-47418delCAAATATATATATAATATATAAATAT ATATACAAATATATATATAATATATAAATATATATACAAATATATAATAT ATAAATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92161757	AGAACACC others(81): Show AGAACACCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTGTAGAACA CCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03704.hp2 NA18939.hp2 HG02647.hp2 HG03704.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0037 a0001c0002t0041 a0001c0001t0016 a0001c0001t0037 a0001c0002t0041	a0001c0001t0016g0121 a0001c0001t0037g0105 a0001c0002t0041g0003 a0001c0001t0016g0121 a0001c0001t0037g0105 a0001c0002t0041g0003	3	183	0.0164	-88	c.175 others(105): Show c.1754-955_1754-868delAGAACACCACACACAGTATGCCGGCGCT TTGCAGTTTCCTCTGTGGAACACCACACACAGTATGCCGGCGCTTTGCAG TTTCCTCTGT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92161843	GTGGAACA others(81): Show GTGGAACACCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTGTGGAA CACCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0049 a0002c0005t0049	a0002c0005t0049g0161 a0002c0005t0049g0161	1	188	0.0053	-88	c.175 others(105): Show c.1754-883_1754-796delTTGCAGTTTCCTCTGTGGAACACCACAC ACAGTATGCCGGCGCTTTGCAGTTTCCTCTATGGAACACCACACACAGTA TGCCGGCGCT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM10L1_chr12_11166194_11181016	11168264	GAAAGAAA others(81): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03942.hp2 NA18952.hp2 others(8): Show HG03195.hp1 HG03942.hp2 NA18952.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18994.hp1 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	11	385	0.0286	-88	c.-30 others(99): Show c.-3092_-3005delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAA GAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2929		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168615486	GGCCTCTT others(81): Show GGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTA CAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	178	0.0056	-88	c.907 others(105): Show c.907+7249_907+7336delCCTCTTCACACCTACAGCCAGCACAGGG TCTCTTCATCTTCATACTTACAGCCGGCACAGGGCCTCTTTACATCTACA GCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1317095	CAGGCCAG others(81): Show CAGGCCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTGAGCATCAGGCC AGCATTGGAGAAGGCTGGGATTCTGGAACATTTAGCATG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02895.hp1 others(4): Show HG02145.hp2 HG02572.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03540.hp2 NA21309.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0010 a0017	a0001c0001 a0001c0002 a0006c0028 others(3): Show a0001c0001 a0001c0002 a0006c0028 a0007c0016 a0010c0029 a0017c0036	a0001c0001t0001 a0001c0002t0001 a0006c0028t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0006c0028t0001 a0007c0016t0001 a0010c0029t0001 a0017c0036t0001	a0001c0001t0001g0101 a0001c0002t0001g0084 a0001c0002t0001g0118 others(4): Show a0001c0001t0001g0101 a0001c0002t0001g0084 a0001c0002t0001g0118 a0006c0028t0001g0127 a0007c0016t0001g0143 a0010c0029t0001g0152 a0017c0036t0001g0070	7	162	0.0432	-88	c.148 others(105): Show c.1488+753_1488+840delGCATTGAGCATCAGGCCAGCATTGGAGA AGGCTGGGATTCTGGAACATTTAGCATGAGGCCAGCATTGGAGAAGGTTG GGATTCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1317407	CCAGCATT others(81): Show CCAGCATTGGAGAAGGTTGGGATTCTGGAGCATGTAGCATGAGGCCAGCA TTGGAGAAGGTTGGGATTCTGGAGCATTTAGCATCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0116 a0003c0007t0001g0116	1	188	0.0053	-88	c.148 others(107): Show c.1488+1065_1488+1152delGTAGCATGAGGCCAGCATTGGAGAAG GTTGGGATTCTGGAGCATTTAGCATCAGGTCAGCATTGGAGAAGGTTGGG ATTCTGGAGCAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX27_chr1_151607050_151704080	151641800	ATATAGAT others(81): Show ATATAGATATATATGAGATATATATGTCAGCTATAGATATATATGAGATA TATATATCAGCTATAGATATATATGATATATATATCAGC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0197 a0001c0001t0097g0197	1	364	0.0027	-88	c.543 others(105): Show c.543+2706_543+2793delGTCAGCTATAGATATATATGAGATATAT ATATCAGCTATAGATATATATGATATATATATCAGCTATAGATATATATG AGATATATAT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(81): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02486.hp2 HG03130.hp1 others(1): Show HG01071.hp1 HG02486.hp2 HG03130.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0038 a0001c0003t0001 a0001c0001t0001 a0001c0001t0038 a0001c0003t0001	a0001c0001t0001g0120 a0001c0001t0001g0226 a0001c0001t0038g0227 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0226 a0001c0001t0038g0227 a0001c0003t0001g0105	4	183	0.0219	-88	c.687 others(105): Show c.687+4177_687+4264delGTGTGTGTGTGTGTGTGTTTTCCCTCCT TGGTGATTCTAGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOX11_chr2_5687384_5706385	5706244	AGAGGAGC others(81): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGA GCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	394	0.0025	-88	c.12 others(101): Show c.12198_*12285delGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCT GGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4860		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706296	AGGGAGGC others(81): Show AGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAG GCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAAGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(3): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0056 a0001c0001t0151 others(3): Show a0001c0001t0053 a0001c0001t0056 a0001c0001t0151 a0001c0001t0153 a0001c0001t0163 a0001c0001t0181	a0001c0001t0053g0000 a0001c0001t0056g0000 a0001c0001t0151g0000 others(3): Show a0001c0001t0053g0000 a0001c0001t0056g0000 a0001c0001t0151g0000 a0001c0001t0153g0000 a0001c0001t0163g0000 a0001c0001t0181g0000	6	421	0.0143	-88	c.12 others(101): Show c.12250_*12337delGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGG GGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGA GAAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4912		chr2	TogoVar
SPAG9_chr17_50957174_51125868	51076982	TTATCTAG others(81): Show TTATCTAGCTATCTAGCTATCTAGCTAGCTAGCTAGCTATCTAGCTATCT ATCTAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19240.hp1 HG02572.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0178 a0001c0001t0004g0191 a0001c0001t0001g0178 a0001c0001t0004g0191	2	271	0.0074	-88	c.424 others(105): Show c.424+2514_424+2601delGCTAGCTAGATAGCTAGCTAGATAGCTA GATAGCTAGATAGATAGCTAGATAGCTAGCTAGCTAGCTAGATAGCTAGA TAGCTAGATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89848486	GTTTCTGC others(81): Show GTTTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGTGGTGTTTCT GCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTACAGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp2 others(28): Show HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01175.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18954.hp2 NA18960.hp1 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp1	a0002 a0005 a0012 others(2): Show a0002 a0005 a0012 a0013 a0014	a0002c0002 a0005c0007 a0005c0014 others(3): Show a0002c0002 a0005c0007 a0005c0014 a0012c0013 a0013c0025 a0014c0015	a0002c0002t0002 a0002c0002t0014 a0005c0007t0002 others(4): Show a0002c0002t0002 a0002c0002t0014 a0005c0007t0002 a0005c0014t0002 a0012c0013t0002 a0013c0025t0002 a0014c0015t0002	a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 others(28): Show a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0014g0272 a0005c0007t0002g0261 a0005c0007t0002g0262 a0005c0007t0002g0269 a0005c0007t0002g0275 a0005c0014t0002g0279 a0012c0013t0002g0263 a0013c0025t0002g0268 a0014c0015t0002g0277	31	354	0.0876	-88	c.289 others(105): Show c.289-1778_289-1691delTGGTGTTTCTGCAGGACAGACGAGGCAG GTTCCAGGGCCTTCTACAGTATTTCTGCAGGACAGACGAGGCAGGTTCCA GGGCCTTCTG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPTB_chr14_64741283_64884907	64865026	AGATGCTT others(81): Show AGATGCTTGGAGTAGATTTTATCTATATAACATCTCTCTTTGATGAGTCT TGATGCTTTAAGCATCAGGTCTTAGAGAAAGGACAATGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0008 a0003c0039t0008	a0003c0039t0008g0070 a0003c0039t0008g0070	1	266	0.0038	-88	c.-52 others(107): Show c.-52+14678_-52+14765delACATTGTCCTTTCTCTAAGACCTGAT GCTTAAAGCATCAAGACTCATCAAAGAGAGATGTTATATAGATAAAATCT ACTCCAAGCATC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SRGAP2C_chr1_121179975_121397874	121239194	ATATATAT others(81): Show ATATATATATATATATATATATATATATATATATACTATATATATATATA TACTATATATATATATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	270	0.0037	-88	c.68- others(105): Show c.68-45590_68-45503delTATATATATATATATACTATATATATAT ATATACTATATATATATATATATATACTATATATATATATACTATATATA TATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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