Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF38_chr9_36331400_36405269	36341811	TATATATA others(49): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	402	0.0025	-56	c.148 others(73): Show c.1485+458_1485+513delTTATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNH1_chr11_489515_512242	491674	ACTGTGTT others(49): Show ACTGTGTTTGTCCCAGGCTGGCAGACACTGGGCAGTGGACACAGGATTCC TGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02080.hp2 HG03225.hp1 others(6): Show HG01884.hp2 HG02080.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 NA18957.hp1 NA18973.hp1 NA19063.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0016 a0001c0001 a0001c0005 a0001c0016	a0001c0001t0001 a0001c0005t0001 a0001c0016t0001 a0001c0001t0001 a0001c0005t0001 a0001c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0115 a0001c0005t0001g0152 a0001c0016t0001g0092	9	387	0.0233	-56	c.29 others(67): Show c.2961_*3016delCACCCCAGGAATCCTGTGTCCACTGCCCAGTGTC TGCCAGCCTGGGACAAACACAG	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		2840		chr11	TogoVar
RORA_chr15_60483284_61234302	60597539	ACACACAC others(49): Show ACACACACACAACATATATATATATATATATATATACACATATATATATA TATATAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA19030.hp2 HG01168.hp1 HG01169.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0057 a0001c0001t0007g0113 a0001c0001t0009g0038 a0001c0001t0007g0057 a0001c0001t0007g0113 a0001c0001t0009g0038	3	118	0.0254	-56	c.197 others(75): Show c.197-65744_197-65689delGTATATATATATATATATGTGTATAT ATATATATATATATATATGTTGTGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61137019	AAAAGAAA others(49): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0020 a0001c0004t0008 a0001c0001t0020 a0001c0004t0008	a0001c0001t0020g0108 a0001c0004t0008g0071 a0001c0001t0020g0108 a0001c0004t0008g0071	2	118	0.0170	-56	c.166 others(75): Show c.166+91978_166+92033delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	272967	TGAGACCC others(49): Show TGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACA TCAGGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(6): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01070.hp1 HG01167.hp2 NA19003.hp1 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0008g0042 others(6): Show a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0008g0042 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0012g0006 a0001c0001t0016g0082 a0001c0001t0016g0093	9	133	0.0677	-56	c.438 others(73): Show c.438+8745_438+8800delTTCCTGATGTCGCCCTCGCTGGGGTCTC ACCCTGACGTAGCCCTTGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273536	AGCGAGGG others(49): Show AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGA GACCCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01258.hp2 others(27): Show HG00280.hp1 HG01192.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02698.hp2 HG02976.hp1 HG03017.hp2 HG04184.hp1 HG04184.hp2 NA18947.hp1 NA18959.hp2 NA18963.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19056.hp1 NA19074.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0006c0021 a0007c0005 a0008c0011 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0006c0021t0007 a0007c0005t0011 a0008c0011t0001 a0010c0010t0005	a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0124 others(27): Show a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0004g0039 a0001c0001t0005g0017 a0001c0001t0012g0053 a0001c0001t0013g0107 a0001c0001t0015g0041 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0020g0127 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0032g0004 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0002t0003g0033 a0001c0004t0001g0050 a0001c0004t0001g0078 a0006c0021t0007g0112 a0007c0005t0011g0007 a0008c0011t0001g0054 a0010c0010t0005g0035	30	133	0.2256	-56	c.438 others(73): Show c.438+8176_438+8231delCGGGGTCTCACCCTGACGTCACCCTCGC TGGGGTCTCTCCCTGACGTCACCCTCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPL23_chr17_38842860_38858721	38846775	TAAAGGTA others(49): Show TAAAGGTACACACCACCACACCCGGCCAATTTTTGCGTGCCTGTAGCTAG ACTTCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG01884.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0021 a0001c0001t0010g0021	2	418	0.0048	-56	c.33 others(67): Show c.3301_*3356delCTGAAGTCTAGCTACAGGCACGCAAAAATTGGCC GGGTGTGGTGGTGTGTACCTTT	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		1084		chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191921	CATATATA others(49): Show CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02280.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	2	272	0.0074	-56	c.-40 others(67): Show c.-4078_-4023delCCATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3723		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80665474	TTTCCTTT others(49): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTC CATGTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02145.hp2 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0047 a0001c0007 a0001c0047	a0001c0007t0030 a0001c0047t0012 a0001c0007t0030 a0001c0047t0012	a0001c0007t0030g0020 a0001c0047t0012g0150 a0001c0007t0030g0020 a0001c0047t0012g0150	2	196	0.0102	-56	c.348 others(75): Show c.348+21667_348+21722delCCTTTCCTTTCCTTTCCTTTCCTTTC CATGTCCTTTCCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(49): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01346.hp1 others(19): Show HG00280.hp2 HG00735.hp2 HG01346.hp1 HG01943.hp2 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp2 NA18942.hp1 NA18959.hp1 NA18960.hp1 NA18968.hp1 NA18984.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19070.hp1 NA19081.hp2 NA19085.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0012 a0005c0005 others(1): Show a0001c0001 a0001c0012 a0005c0005 a0009c0008	a0001c0001t0001 a0001c0012t0001 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0005c0005t0001 a0009c0008t0001	a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 others(19): Show a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0307 a0001c0012t0001g0211 a0005c0005t0001g0243 a0009c0008t0001g0192	22	314	0.0701	-56	c.421 others(73): Show c.421+3911_421+3966delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCCTTTCTTTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RTN1_chr14_59590983_59875776	59749192	ATATATCT others(49): Show ATATATCTATATATATATCTATATATATCTATATATCTATATATATCTAT ATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(42): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18955.hp1 NA18965.hp1 NA18983.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19012.hp1 NA19068.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0008 a0001c0001 a0001c0003 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0007c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(42): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0003t0001g0101 a0007c0008t0001g0048	45	172	0.2616	-56	c.242 others(73): Show c.242-2767_242-2712delGATATATATAGATATATATAGATATATA GATATATATAGATATATATATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
S1PR4_chr19_3173769_3185332	3174746	CCCTCATG others(49): Show CCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGAC GCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01070.hp2 others(14): Show HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01261.hp2 HG01975.hp2 HG02145.hp1 HG02148.hp2 HG02280.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 NA18612.hp1 NA18944.hp2 NA20805.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0013c0024	a0001c0001t0001 a0001c0003t0001 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0019t0001 a0013c0024t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0019t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0019t0001g0000 a0013c0024t0001g0000	17	418	0.0407	-56	c.-40 others(67): Show c.-4046_-3991delCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GTGTTCTCATGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4022		chr19	TogoVar
SAMD11_chr1_918923_949574	934189	GCGTTACA others(49): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	434	0.0023	-56	c.843 others(73): Show c.843-1555_843-1500delCCGTTACAGGTGGGCAGGGGAGGCGGCT CCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934217	CCGTTACA others(49): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0037 a0005c0037	a0005c0037t0021 a0005c0037t0021	a0005c0037t0021g0267 a0005c0037t0021g0267	1	434	0.0023	-56	c.843 others(73): Show c.843-1527_843-1472delCCGTTACAGGTGGGCAGGGGAGGCGGCT GCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934545	AGGCTGCT others(49): Show AGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGG CGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0280 a0006c0007t0008g0280	1	434	0.0023	-56	c.843 others(73): Show c.843-1223_843-1168delTGCTCCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934736	GGGGGAGG others(49): Show GGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0027 a0001c0002t0002 a0001c0004t0027	a0001c0002t0002g0359 a0001c0004t0027g0362 a0001c0002t0002g0359 a0001c0004t0027g0362	2	434	0.0046	-56	c.843 others(72): Show c.843-1008_843-953delAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934792	AGGGGAGG others(49): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 HG01358.hp2 HG01943.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0061 a0001c0004t0001g0062	2	434	0.0046	-56	c.843 others(71): Show c.843-939_843-884delCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAP30_chr4_173365954_173382532	173369864	ACGCGCGC others(49): Show ACGCGCGCACACACACGTACACACGCGCGCGCCCGCGAACACATACATAC AAGCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-56	c.-13 others(67): Show c.-1318_-1263delCGCGCGCACACACACGTACACACGCGCGCGCCCG CGAACACATACATACAAGCAGG	SAP30	ENSG00000164105.4	transcript	ENST00000296504.4	protein_coding		1089		chr4	TogoVar
SARDH_chr9_133658560_133743352	133665184	GCTGCCTG others(49): Show GCTGCCTGTCTGGATGCCGTTTAACCTCGGAACCTCGGCTTCCCTGGTCA CGTTGGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	262	0.0038	-56	c.263 others(75): Show c.2632-1226_2632-1171delACCAACGTGACCAGGGAAGCCGAGGT TCCGAGGTTAAACGGCATCCAGACAGGCAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	20/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668443	TACCCTCC others(49): Show TACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 HG03834.hp2 HG02559.hp1 HG03486.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0001c0033 a0002c0003 a0001c0016 a0001c0033 a0002c0003	a0001c0016t0002 a0001c0033t0004 a0002c0003t0002 a0001c0016t0002 a0001c0033t0004 a0002c0003t0002	a0001c0016t0002g0249 a0001c0033t0004g0029 a0002c0003t0002g0009 a0001c0016t0002g0249 a0001c0033t0004g0029 a0002c0003t0002g0009	3	262	0.0115	-56	c.249 others(75): Show c.2496-1629_2496-1574delGAGGGTGAGGGGAGAGGGAGGGCGAG GGGAGAGGGAGGGCGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(49): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG02055.hp2 others(6): Show HG00140.hp2 HG01099.hp2 HG02055.hp2 HG02615.hp1 HG02818.hp2 HG03017.hp2 HG03490.hp1 HG03704.hp1 NA18980.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0004c0012 a0008c0021	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0007t0022 a0002c0002t0003 a0002c0005t0006 a0002c0005t0035 a0004c0012t0002 a0008c0021t0005	a0001c0001t0001g0151 a0001c0001t0005g0221 a0001c0001t0017g0231 others(6): Show a0001c0001t0001g0151 a0001c0001t0005g0221 a0001c0001t0017g0231 a0001c0007t0022g0230 a0002c0002t0003g0196 a0002c0005t0006g0016 a0002c0005t0035g0148 a0004c0012t0002g0088 a0008c0021t0005g0090	9	322	0.0280	-56	c.157 others(73): Show c.157-2497_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBK1_chr16_28287525_28328849	28301026	CTCACCAG others(49): Show CTCACCAGAGACCACCACTTGTCCACTGGTAGACATTCAGCCCAGTCCCC TTGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03195.hp1 HG02486.hp1 HG02559.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186	a0001c0001t0184g0285 a0001c0001t0185g0264 a0001c0001t0186g0265 a0001c0001t0184g0285 a0001c0001t0185g0264 a0001c0001t0186g0265	3	384	0.0078	-56	c.-8+ others(71): Show c.-8+7730_-8+7785delCCAGAGACCACCACTTGTCCACTGGTAGAC ATTCAGCCCAGTCCCCTTGCCTGTCA	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCHIP1_chr3_159268244_159902359	159626091	TAGATAGA others(49): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA TATCTAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	100	0.0100	-56	c.64- others(75): Show c.64-138350_64-138295delGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATATATCTAGA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828388	CATATATA others(49): Show CATATATACGTATATATATACGTATATATACGTATATATATACGTATATA TACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20129.hp2 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0076 a0001c0002t0002g0047 a0001c0002t0001g0076 a0001c0002t0002g0047	2	100	0.0200	-56	c.760 others(75): Show c.760-37756_760-37701delACGTATATATACGTATATATATACGT ATATATACGTATATATATACGTATATATAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12596360	AAGTGCAA others(49): Show AAGTGCAATAGGTGTGGACCATCAGGAAATGGCCTCCCTGATGTCTGCAT TCACTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0033 a0005c0007t0033	a0005c0007t0033g0351 a0005c0007t0033g0351	1	372	0.0027	-56	c.517 others(73): Show c.517-8146_517-8091delTAGGTGTGGACCATCAGGAAATGGCCTC CCTGATGTCTGCATTCACTTTAGTGCAA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLY_chr2_238056001_238104413	238098563	AGGACTGC others(49): Show AGGACTGCCCACATGGGACCGCCCACATAGGACCGCCCACATAGGACCGC CCACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0145 a0004c0009t0145	a0004c0009t0145g0024 a0004c0009t0145g0024	1	392	0.0026	-56	c.21 others(65): Show c.213_*268delTGCCCACATGGGACCGCCCACATAGGACCGCCCACA TAGGACCGCCCACATGGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML4_chr6_107697154_107829313	107782870	GTCTGAGT others(49): Show GTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAG GTGCTGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	250	0.0040	-56	c.-59 others(75): Show c.-59-10540_-59-10485delGCAGCACCTCCCATCAGGCAAACTCA GACCAGCACCTGCCATCAGGCAAACTCAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783085	CAGGTGCT others(49): Show CAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02896.hp1 others(1): Show HG01884.hp1 HG02647.hp2 HG02896.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0004 a0001c0002t0008 a0001c0008t0008 a0001c0001t0004 a0001c0002t0008 a0001c0008t0008	a0001c0001t0004g0110 a0001c0001t0004g0146 a0001c0002t0008g0145 others(1): Show a0001c0001t0004g0110 a0001c0001t0004g0146 a0001c0002t0008g0145 a0001c0008t0008g0111	4	250	0.0160	-56	c.-59 others(75): Show c.-59-10755_-59-10700delCCCATCAGGCAAACTCAGACCAGCAC CTGCCATCAGGCAAACTCAGACCAGCACCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783365	GAGGAGCT others(49): Show GAGGAGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCC TGATGGC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0131 a0001c0003t0012g0131	1	250	0.0040	-56	c.-59 others(75): Show c.-59-11035_-59-10980delGCCATCAGGCAAACTCAGACCAGCAC CTCCCATCAGGCAAACTCAGACCAGCTCCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783393	GAGGTGCT others(49): Show GAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19079.hp1 NA19090.hp1 NA18977.hp1 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0010t0007 a0001c0009t0001 a0001c0010t0007	a0001c0009t0001g0139 a0001c0010t0007g0140 a0001c0010t0007g0141 a0001c0009t0001g0139 a0001c0010t0007g0140 a0001c0010t0007g0141	3	250	0.0120	-56	c.-59 others(75): Show c.-59-11063_-59-11008delGCCATCAGGCAAACTCAGACCAGCAC CTGCCATCAGGCAAACTCAGACCAGCACCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783509	TGCTGGTC others(49): Show TGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0072 a0001c0011t0001g0072	1	250	0.0040	-56	c.-59 others(75): Show c.-59-11179_-59-11124delTCCTCCCATCAGGCAAACTCAGACCA GCACCTGCCATCAGGCAAACTCAGACCAGC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783533	CAGGTGCT others(49): Show CAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGAGCTGGTCTGAGTTTGCC TGATGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01175.hp1 others(10): Show HG00639.hp1 HG00735.hp2 HG01175.hp1 HG01256.hp1 HG01358.hp2 HG02004.hp2 HG02258.hp1 HG03209.hp1 HG03704.hp1 NA18950.hp2 NA19043.hp2 NA19076.hp2 NA19077.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0003t0007 a0001c0003t0012 a0002c0004t0009 a0002c0004t0028 a0005c0017t0023	a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0003g0092 others(10): Show a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0003g0092 a0001c0001t0006g0046 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0010g0083 a0001c0003t0007g0047 a0001c0003t0007g0100 a0001c0003t0012g0131 a0002c0004t0009g0096 a0002c0004t0028g0086 a0005c0017t0023g0112	13	250	0.0520	-56	c.-59 others(75): Show c.-59-11203_-59-11148delCCCATCAGGCAAACTCAGACCAGCTC CTCCCATCAGGCAAACTCAGACCAGCACCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38733778	TGGTGCAA others(49): Show TGGTGCAATCTCAGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATT CTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	372	0.0027	-56	c.228 others(75): Show c.2281-4933_2281-4878delGGAGGAGAATTGCTTGAACCCGGGAG GCGGAGGTTGCGGTGAGCTGAGATTGCACC	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963368	TATATATA others(49): Show TATATATATATATATATATGATGGAGATATATATATATATATATATATAT GATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp1 HG01975.hp2 others(24): Show HG00621.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02559.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03209.hp2 HG04115.hp2 HG06807.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18957.hp1 NA18965.hp2 NA18968.hp2 NA18989.hp1 NA19005.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0003c0004 a0001c0002 a0001c0007 a0003c0004	a0001c0002t0001 a0001c0002t0016 a0001c0007t0005 others(1): Show a0001c0002t0001 a0001c0002t0016 a0001c0007t0005 a0003c0004t0001	a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0163 others(24): Show a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0016g0184 a0001c0007t0005g0302 a0001c0007t0005g0304 a0001c0007t0005g0306 a0001c0007t0005g0311 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0228 a0003c0004t0001g0230 a0003c0004t0001g0237	27	314	0.0860	-56	c.-27 others(75): Show c.-279-3001_-279-2946delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(49): Show AATATATATATTATATATATATATATATATATATATATATATATATATAT ATATTAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	306	0.0033	-56	c.-9+ others(71): Show c.-9+3098_-9+3153delTATATATATATATATATATATATATATATA TATATATATATATTATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(49): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG00738.hp2 others(20): Show HG00558.hp2 HG00735.hp2 HG00738.hp2 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG02165.hp1 HG02723.hp1 HG03209.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18980.hp1 NA19007.hp1 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0010 a0001c0001 a0001c0002 a0010c0010	a0001c0001t0001 a0001c0002t0001 a0010c0010t0001 a0001c0001t0001 a0001c0002t0001 a0010c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0108 a0001c0001t0001g0173 a0001c0001t0001g0297 a0001c0002t0001g0184 a0010c0010t0001g0049	23	306	0.0752	-56	c.-8- others(73): Show c.-8-15481_-8-15426delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288262	TCTCTGCT others(49): Show TCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCC CGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG03540.hp1 others(1): Show HG00558.hp2 HG01109.hp2 HG03540.hp1 HG03688.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0041 a0003c0004 a0009c0041	a0003c0004t0003 a0009c0041t0001 a0003c0004t0003 a0009c0041t0001	a0003c0004t0003g0141 a0003c0004t0003g0142 a0003c0004t0003g0143 others(1): Show a0003c0004t0003g0141 a0003c0004t0003g0142 a0003c0004t0003g0143 a0009c0041t0001g0050	4	290	0.0138	-56	c.166 others(73): Show c.1662+228_1662+283delCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTGCTCCGTCCCGTGTCCCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288401	TCCCGTGT others(49): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0106 a0010c0020t0003g0106	1	290	0.0035	-56	c.166 others(73): Show c.1662+373_1662+428delCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288589	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	290	0.0035	-56	c.166 others(73): Show c.1662+554_1662+609delGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288750	CTCCGTCC others(49): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0124 a0004c0006t0010g0124	1	290	0.0035	-56	c.166 others(73): Show c.1662+722_1662+777delGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGTTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288775	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19009.hp2 HG03579.hp1 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0207 a0003c0004t0003g0134 a0001c0001t0001g0207 a0003c0004t0003g0134	2	290	0.0069	-56	c.166 others(73): Show c.1662+740_1662+795delGTGTCTCTGCTCCGTCCCCCGTGTCCCT GTTCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289055	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	290	0.0035	-56	c.166 others(75): Show c.1662+1020_1662+1075delGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289100	TCCCTGCT others(49): Show TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0001 a0009c0041t0001	a0009c0041t0001g0050 a0009c0041t0001g0050	1	290	0.0035	-56	c.166 others(75): Show c.1662+1065_1663-1114delCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289149	CCGTGTCC others(49): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0106 a0010c0020t0003g0106	1	290	0.0035	-56	c.166 others(75): Show c.1662+1114_1663-1065delGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289234	TCTGCTCC others(49): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	290	0.0035	-56	c.166 others(74): Show c.1663-1032_1663-977delTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289239	TCCGTCCC others(49): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0075 a0002c0002t0013g0075	1	290	0.0035	-56	c.166 others(74): Show c.1663-1014_1663-959delTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289257	TCCGTCCC others(49): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18961.hp1 NA19057.hp2 others(1): Show HG01346.hp1 NA18961.hp1 NA19057.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0004 a0003c0004t0003g0006 a0003c0004t0003g0007 others(1): Show a0003c0004t0003g0004 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0151	4	290	0.0138	-56	c.166 others(74): Show c.1663-1006_1663-951delCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCCCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289709	CCGTGTCC others(49): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	290	0.0035	-56	c.166 others(73): Show c.1663-560_1663-505delGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289916	CTCTGCCC others(49): Show CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0287 a0008c0007t0004g0287	1	290	0.0035	-56	c.166 others(73): Show c.1663-349_1663-294delCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290072	TCCCGTGT others(49): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	290	0.0035	-56	c.166 others(72): Show c.1663-154_1663-99delTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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