Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK8_chr9_209865_470255	321493	T T	TGACCGAA others(237): Show TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0231 a0001c0016t0002g0231	1	256	0.0039	244	c.828 others(261): Show c.828-4118_828-4117insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	321652	T T	TCAGAGAT others(237): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0078 a0007c0009t0001g0078	1	256	0.0039	244	c.828 others(261): Show c.828-3898_828-3897insTCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(237): Show TCCACCATCACCACCACCTCCACCATCACCACTTCCACCATCACCACCAC CTCCACCATCACCACCTCCCACCACCTCCACCATCACCACCACCTCCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCATCACCACCACCACCGCCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0146 a0047c0146	a0047c0146t0001 a0047c0146t0001	a0047c0146t0001g0013 a0047c0146t0001g0013	1	256	0.0039	244	c.323 others(261): Show c.3234+744_3234+745insTCACCACCACCTCCACCATCACCACTTC CACCATCACCACCACCTCCACCATCACCACCTCCCACCACCTCCACCATC ACCACCACCTCCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCACC GCCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619009	C C	CGCTCCCC others(237): Show CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	250	0.0040	244	c.-10 others(263): Show c.-107+5307_-107+5308insCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH1_chr17_2025153_2048898	2035388	A A	AAGGGCCC others(237): Show AAGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAG TGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGT CCGGACGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACG AGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	392	0.0026	244	c.279 others(259): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGA GAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCC CTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTG CGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(237): Show ATATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0107 a0001c0001t0016g0107	1	316	0.0032	244	c.355 others(263): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATGTATATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(237): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCT TCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCT TTACTTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTT CCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTT CCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCCCTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0157 a0001c0003t0019g0157	1	398	0.0025	244	c.478 others(263): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTTCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGTTCCTCTTCTTCCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCC CCTTCCCCTTCTTCCCCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(237): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATGACTATATATTATATATTTATATAATATATTTATA TAAATACATTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01346.hp1 NA19043.hp2 HG01192.hp1 HG01346.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0004g0129	3	290	0.0103	244	c.-53 others(263): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC2I1_chr7_158851558_158951189	158950508	G G	GGGGACCA others(237): Show GGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTG ATATACTGCACGGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGA TTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGT GTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATA CGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02615.hp1 others(6): Show HG00408.hp2 HG02027.hp2 HG02615.hp1 NA18948.hp2 NA18953.hp1 NA18962.hp1 NA18992.hp1 NA19007.hp2 NA19057.hp1	a0002 a0012 a0016 a0002 a0012 a0016	a0002c0002 a0012c0013 a0016c0020 a0002c0002 a0012c0013 a0016c0020	a0002c0002t0001 a0012c0013t0001 a0016c0020t0001 a0002c0002t0001 a0012c0013t0001 a0016c0020t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0030 others(6): Show a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0095 a0012c0013t0001g0104 a0016c0020t0001g0001	9	274	0.0329	244	c.47 others(255): Show c.4729_*4730insGGGACCAGCCTCTATACGATTCCAGGTGTTCTAT ATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATATGATTCC AGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTC TATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCG GGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4320		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950508	G G	GGGGACCA others(237): Show GGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTG ATATACTGCACGGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGA TTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGT GTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATA TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00597.hp1 others(42): Show HG00140.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03453.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18967.hp2 NA18969.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0013 others(2): Show a0001 a0002 a0013 a0017 a0020	a0001c0001 a0002c0002 a0013c0015 others(2): Show a0001c0001 a0002c0002 a0013c0015 a0017c0024 a0020c0011	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 a0013c0015t0001 a0017c0024t0001 a0020c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0268 a0001c0001t0001g0269 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0005g0136 a0001c0001t0005g0180 a0001c0001t0005g0202 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0014g0078 a0002c0002t0016g0029 a0013c0015t0001g0051 a0017c0024t0001g0271 a0020c0011t0001g0038	45	274	0.1642	244	c.47 others(255): Show c.4729_*4730insGGGACCAGCCTCTATACGATTCCAGGTGTTCTAT ATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATATGATTCC AGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTC TATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCG GGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4320		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950508	G G	GGGGACCA others(237): Show GGGGACCAGCCTCTATACGATTCCAGGTGTTCTGTATGATTCCAGGTGTG ATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGA TTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGT GTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATA TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	274	0.0037	244	c.47 others(255): Show c.4729_*4730insGGGACCAGCCTCTATACGATTCCAGGTGTTCTGT ATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCC AGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTC TATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCG GGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4320		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950647	C C	CGATTCCA others(237): Show CGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(55): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02809.hp2 HG03017.hp1 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18939.hp1 NA18943.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA19001.hp2 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0015	a0001c0001 a0002c0002 a0002c0017 others(2): Show a0001c0001 a0002c0002 a0002c0017 a0014c0018 a0015c0026	a0001c0001t0005 a0001c0001t0019 a0002c0002t0001 others(5): Show a0001c0001t0005 a0001c0001t0019 a0002c0002t0001 a0002c0002t0017 a0002c0002t0021 a0002c0017t0001 a0014c0018t0001 a0015c0026t0001	a0001c0001t0005g0139 a0001c0001t0005g0196 a0001c0001t0019g0235 others(55): Show a0001c0001t0005g0139 a0001c0001t0005g0196 a0001c0001t0019g0235 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0017g0024 a0002c0002t0021g0083 a0002c0017t0001g0013 a0014c0018t0001g0074 a0015c0026t0001g0058	58	274	0.2117	244	c.48 others(255): Show c.4868_*4869insGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCA GCCTCTATAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4459		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950647	C C	CGATTCCA others(237): Show CGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACGGGGACCAGCCTCTATATGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	274	0.0037	244	c.48 others(255): Show c.4868_*4869insGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATATG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCA GCCTCTATAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4459		chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158950708	T T	TGATTCCA others(237): Show TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0028 a0002c0002 a0010c0028	a0002c0002t0001 a0010c0028t0023 a0002c0002t0001 a0010c0028t0023	a0002c0002t0001g0055 a0010c0028t0023g0237 a0002c0002t0001g0055 a0010c0028t0023g0237	2	274	0.0073	244	c.49 others(255): Show c.4929_*4930insGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCA GCCTCTATAC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4520		chr7	TogoVar
DYSF_chr2_71448561_71691763	71618349	G G	GTGGCATG others(237): Show GTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGG CATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(33): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01934.hp2 HG01978.hp2 HG02083.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18948.hp1 NA18952.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0020	a0001c0002 a0001c0005 a0001c0012 others(8): Show a0001c0002 a0001c0005 a0001c0012 a0001c0014 a0001c0057 a0001c0071 a0001c0075 a0001c0076 a0002c0067 a0011c0054 a0020c0063	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0012t0001 a0001c0014t0001 a0001c0057t0001 a0001c0071t0002 a0001c0075t0001 a0001c0076t0001 a0002c0067t0001 a0011c0054t0002 a0020c0063t0001	a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0059 others(33): Show a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0094 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0161 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0181 a0001c0005t0001g0029 a0001c0005t0001g0136 a0001c0005t0001g0140 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0012t0001g0071 a0001c0012t0001g0127 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0057t0001g0107 a0001c0071t0002g0077 a0001c0075t0001g0055 a0001c0076t0001g0120 a0002c0067t0001g0038 a0011c0054t0002g0164 a0020c0063t0001g0036	36	192	0.1875	244	c.441 others(263): Show c.4410+4939_4410+4940insTGGCATGTGTGGTAGAGGTGGTGTGT GTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGT GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGG GTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTG GGGTGTGTGTGTGGTAGA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71618349	G G	GTGGCATG others(237): Show GTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGG CATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(33): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01261.hp2 HG01934.hp1 HG01978.hp1 HG02083.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp2 HG03017.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18948.hp2 NA18952.hp2 NA18963.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0013 a0022	a0001c0002 a0001c0005 a0001c0013 others(9): Show a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0057 a0001c0073 a0001c0080 a0001c0081 a0002c0070 a0005c0035 a0013c0054 a0022c0066	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0057t0001 a0001c0073t0001 a0001c0080t0001 a0001c0081t0001 a0002c0070t0001 a0005c0035t0001 a0013c0054t0002 a0022c0066t0001	a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0067 others(33): Show a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0013t0001g0057 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0057t0001g0009 a0001c0073t0001g0128 a0001c0080t0001g0086 a0001c0081t0001g0018 a0002c0070t0001g0079 a0005c0035t0001g0122 a0013c0054t0002g0169 a0022c0066t0001g0075	36	208	0.1731	244	c.446 others(263): Show c.4465-2198_4465-2197insTGGCATGTGTGGTAGAGGTGGTGTGT GTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGT GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGG GTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTG GGGTGTGTGTGTGGTAGA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(237): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCT CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCT CCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0216 a0001c0014t0001g0216	1	346	0.0029	244	c.634 others(261): Show c.634+9903_634+9904insCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTC CCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCC TCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTC CCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCTCCCCC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477732	G G	GCCCTCCC others(237): Show GCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCC CCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCC CGTACGCCCTCACCTCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCAC CTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	346	0.0029	244	c.634 others(261): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCG TACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCC CTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCCTCCCCTCCCC TCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477737	C C	CCCCTCCC others(237): Show CCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCCTCCCCTCCCCCGTA CGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTC CCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTA CGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	346	0.0029	244	c.634 others(261): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCCTCCCCTCCCCCGTACGC CCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCC CGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGC CCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCC TCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAM120B_chr6_170301758_170412067	170377236	T T	TCCCAGAC others(237): Show TCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAATCCCAGACGCCCGAGAGAACACAGGCTCACGCTGCTCGG TGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTC ACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAG AACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02129.hp2 HG03492.hp2 others(2): Show HG00558.hp1 HG02129.hp2 HG03492.hp2 NA18747.hp2 NA18978.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0017 a0007c0012 a0001c0002 a0001c0017 a0007c0012	a0001c0002t0001 a0001c0002t0004 a0001c0017t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0017t0001 a0007c0012t0001	a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0004g0069 others(2): Show a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0004g0069 a0001c0017t0001g0080 a0007c0012t0001g0052	5	289	0.0173	244	c.228 others(265): Show c.2284-11045_2284-11044insCGCCCGGGAGAACACAGGCTCACG CTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGAGAGAAC ACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACG CCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCT AATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCA CACGCGTCCCTAAACCCAGA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377304	T T	TGCCTGGG others(237): Show TGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAATCCCAGATGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACGAGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAG GCTCATGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(17): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01433.hp2 HG01978.hp2 HG02056.hp1 HG02300.hp1 HG02523.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18959.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18990.hp1 NA19060.hp2 NA19066.hp1 NA19076.hp1 NA19089.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0015 a0003c0004t0003 a0003c0004t0015	a0003c0004t0003g0005 a0003c0004t0003g0152 a0003c0004t0003g0153 others(16): Show a0003c0004t0003g0005 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0154 a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0015g0151 a0003c0004t0015g0155	20	289	0.0692	244	c.228 others(265): Show c.2284-10980_2284-10979insTGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGATGCCTGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTG GGAGAACACGAGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCTGGGAGAACACAGGCTCATGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(237): Show CGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGGCTCACGCTGC TCTCTGCTGTGCCCACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 HG02055.hp1 HG03225.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0012	a0005c0007t0012g0002 a0005c0007t0012g0002	2	289	0.0069	244	c.228 others(265): Show c.2284-10370_2284-10369insCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTG GGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCCCACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(237): Show CGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCCGGGAGAACACAGGCTCATGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGGCTCACGCTGC TCTCTGCTGTGCCCACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG02451.hp1 HG03579.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0028 a0005c0007t0012 a0005c0007t0028	a0005c0007t0012g0003 a0005c0007t0028g0003 a0005c0007t0012g0003 a0005c0007t0028g0003	2	289	0.0069	244	c.228 others(265): Show c.2284-10370_2284-10369insCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCATGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTG GGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCCCACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBXL14_chr12_1560993_1599581	1574499	G G	GGTGTGGG others(237): Show GGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCT GGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGA GGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGC AGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp2 HG02258.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0142 a0001c0003t0015g0053 a0001c0001t0001g0142 a0001c0003t0015g0053	2	418	0.0048	244	c.119 others(263): Show c.1195-7690_1195-7689insGGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCACCCACACCGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATC CACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCTCACCCAGCCTCCACCCACACCGCTGCTGCCGCCAGC CTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCAC CCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574499	G G	GGTGTGGG others(237): Show GGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCT GGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGA GGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGC AGTGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0383 a0001c0002t0005g0384 a0001c0002t0005g0383 a0001c0002t0005g0384	2	418	0.0048	244	c.119 others(263): Show c.1195-7690_1195-7689insGGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCACCCACACCACTGCCGCCAGCCTCCCCCACCCCAGCCTCCATC CACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCTCACCCAGCCTCCACCCACACCGCTGCTGCCGCCAGC CTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCAC CCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXO11_chr2_47801920_47911498	47900577	C C	CACGTGTG others(237): Show CACGTGTGTATATATACACACACGTATACACGTGTGTATATATACACACG TATATACACACACGTATACACGTGTGTATATATACACACGTATATACACA CGTATACACACACGTACGTATATACACACGTATACACACACGTACGTATA TACACACGTATACACACACGTACGTATATACACACGTATACACACACGTA CGTATATACACACGTATACACACACGTACGTATATACACACGTAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	318	0.0031	244	c.232 others(261): Show c.232+4911_232+4912insATACGTGTGTATATACGTACGTGTGTGT ATACGTGTGTATATACGTACGTGTGTGTATACGTGTGTATATACGTACGT GTGTGTATACGTGTGTATATACGTACGTGTGTGTATACGTGTGTATATAC GTACGTGTGTGTATACGTGTGTATATACGTGTGTATATATACACACGTGT ATACGTGTGTGTATATACGTGTGTATATATACACACGTGTATACGTGTGT GTATATATACACACGT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TCCTCCTC others(237): Show TCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTTCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCC TCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTCCTCC TTCTCCTCCTCCTTCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0202 a0004c0003t0005g0202	1	372	0.0027	244	c.215 others(261): Show c.2153+164_2153+165insCCTCCTCCTCCTCTTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTTCTCCTCCTGCTCCTCTTCC TCCTCCTTCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTCCTCCTTCTCCTCCTCCTTCTCTTCCTCCTCCTC CTCCTCCTCCTCTTCC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17			chr5	TogoVar
FIGN_chr2_163597611_163741008	163655111	T T	TAAGAAAT others(237): Show TAAGAAATGGTTTTCTCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	266	0.0038	244	c.26- others(261): Show c.26-43306_26-43305insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GAGAAAACCATTTCTT	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(237): Show AATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATATAAATATATGTTATATATAT TTATATACATATAAATATATATATTTATATATAAATATATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0020 a0020	a0020c0040 a0020c0040	a0020c0040t0001 a0020c0040t0001	a0020c0040t0001g0183 a0020c0040t0001g0183	1	292	0.0034	244	c.50 others(255): Show c.5093_*5094insATAACATATATTTATATATAAATATATATATTTA TATGTATATAAATATATATAACATATATTTATATATAAATATATATATTT ATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATAT GTATATAAATATATATTTATATGTATATAAATATATATTTATATGTATAT AAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
FOLR1_chr11_72187140_72201299	72201183	C C	CGTACACG others(237): Show CGTACACGTGTACACGTACACGTGTACACGTACACGTGTACACGTGTACA CGTACACGTGTACACGTGTACACGTATACACGTATACACGTGTGTACACG TATACACGTATACACGTATACATACGTATACACGTATACGTATGTATACA CGTATACACGTATGTATACACGTATACACGTATGTATACACGTATACACG TATGTATACGTATACACGTATACGTATGTATACACGTATACGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	412	0.0024	244	c.50 others(255): Show c.5006_*5007insGTACACGTGTACACGTACACGTGTACACGTACAC GTGTACACGTGTACACGTACACGTGTACACGTGTACACGTATACACGTAT ACACGTGTGTACACGTATACACGTATACACGTATACATACGTATACACGT ATACGTATGTATACACGTATACACGTATGTATACACGTATACACGTATGT ATACACGTATACACGTATGTATACGTATACACGTATACGTATGTATACAC GTATACGTAT	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4885		chr11	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(237): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	308	0.0033	244	c.157 others(259): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(237): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0182 a0001c0001t0014g0182	1	308	0.0033	244	c.157 others(259): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FRMD1_chr6_168048095_168084212	168078612	G G	GGCCCTGC others(237): Show GGCCCTGCTCACCCCCACAGCCCTGCTCACCCCCACGGCCCTGCTCACCC CCACAGCCCTGCTCACCCCCACGGCCCTGCTCACCCCCACGGCCCTGCTC ACCCCCACAGCCCTGCTCACCCCCACAGCCCTGCTCACCCCCACAGCCCT GCTCACCCCCACGGCCCTGCTCACCCCCACAGCCCTGCTCACCCCCACGG CCACCCAGGGCCCTGCTCACCCCCATGGCTCTGCTCACCCCCACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0093 a0003c0006t0006g0093	1	402	0.0025	244	c.213 others(259): Show c.213+269_213+270insTGTGGGGGTGAGCAGAGCCATGGGGGTGAG CAGGGCCCTGGGTGGCCGTGGGGGTGAGCAGGGCTGTGGGGGTGAGCAGG GCCGTGGGGGTGAGCAGGGCTGTGGGGGTGAGCAGGGCTGTGGGGGTGAG CAGGGCTGTGGGGGTGAGCAGGGCCGTGGGGGTGAGCAGGGCCGTGGGGG TGAGCAGGGCTGTGGGGGTGAGCAGGGCCGTGGGGGTGAGCAGGGCTGTG GGGGTGAGCAGGGC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(237): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGG GGAGGGGGATGGGGGCGGGGGGGGGGAGGGGAGGGGGCGGGGGGGGGAGG GGATGGGGGCGGGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	364	0.0028	244	c.-20 others(253): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGG GAGGGGCGGGGGGGGAGGGGGATGGGGGCGGGGGGGGGGAGGGGAGGGGG CGGGGGGGGGAGGGGATGGGGGCGGGGGGGGGGAGGGGATGGGCGGGGGG GAGGGGAG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGAGGA others(237): Show GGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGAG GAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAGTGGGG GGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAAGATG GGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAA GATGGGGAGGAGGAGGAAGATGGGGGAGGAGGAGGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	143	0.0070	244	c.590 others(261): Show c.590-1216_590-1215insTCCATTCCCCCCTCCTCCTCCCCCATCT TCCTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCA CTCCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCCCATCTTCCTCCTCCT CTTTCTTCTCCTCCTCCCCCCACTCCCCCTCCTCCTCCCCATCTTCCTCC TCCTCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCAC TCCCCCTCCTCCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308480	C C	CCACCACC others(237): Show CCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCACC ACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCAC CACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCAAATACCAC CACCACCACCATGTCCACCACCACCACCACCACCATCATCACCAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0318 a0001c0002t0002g0318	1	422	0.0024	244	c.962 others(261): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCA CCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCAAATACCACCACCACCACCATGTCCACCACCACCACCACCACCATC ATCACCATCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS2_chr16_4311067_4344595	4344496	C C	CCGTGAGA others(237): Show CCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGG GACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG02015.hp1 HG02083.hp1 others(4): Show HG01256.hp1 HG02015.hp1 HG02083.hp1 HG02109.hp1 NA18939.hp1 NA18980.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0172 a0001c0001t0003g0141 a0001c0001t0012g0089 a0001c0001t0030g0235	7	395	0.0177	244	c.69 others(255): Show c.6972_*6973insCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAG GGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGT GAGAGGATTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4902		chr16	TogoVar
GLIS3_chr9_3819127_4305068	3876692	A A	ACGGAGGG others(237): Show ACGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGAGGGAGGGGG AGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGG AGGGAGGGGAAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAA GGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0013	1	188	0.0053	244	c.229 others(263): Show c.2297+2734_2297+2735insCCCTCCCTCCCTCCCTTCCTTCCCCT CCCTCCCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCC TCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTC CCTCCCTCCCTCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCTCCCTCCC TCCCTTCCCCTCCCTCCG	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(237): Show GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGG AAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGAGGGAGGGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0045 a0001c0022t0045	a0001c0022t0045g0065 a0001c0022t0045g0065	1	188	0.0053	244	c.229 others(263): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCCCTCCCTCCC TTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATA others(237): Show TATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTA CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATATGTTCATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03579.hp2 others(3): Show HG02055.hp2 HG02965.hp1 HG03579.hp2 NA18956.hp1 NA19010.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0148 a0001c0001t0002g0145 a0001c0001t0002g0156 others(3): Show a0001c0001t0001g0148 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0002t0001g0144 a0001c0002t0001g0146	6	234	0.0256	244	c.143 others(261): Show c.143+2206_143+2207insGTTCATATATATATGTTCATATATATGT ATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATAT ATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTAC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATGTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(237): Show AGGAGGGGCAGGAGCGGAGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGA GGGGCGGGGCTGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGG CTGGGGGCGGGCGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGGAGGGGG AGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0001 a0012c0008t0001	a0012c0008t0001g0054 a0012c0008t0001g0054	1	288	0.0035	244	c.-39 others(253): Show c.-394_-393insCTCCGCCCATTCCCCGCCCCGCCCCCACCCTCTCCT CTCTCCCCTCCCCCTCCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCGCC CGCCCCCAGCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCC CCCTCCCCCGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCAG CCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCTCCGCTCCT GCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(237): Show TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCTCCCCCCTCTT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTTCCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	244	c.427 others(261): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC TTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TTCCCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HRC_chr19_49146198_49160396	49157080	C C	CTCTCCCT others(237): Show CTCTCCCTGGGTCTCTGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCC TGGGTCTCTGTCCCCCCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTC TCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTG TTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCG TCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0036 a0036	a0036c0035 a0036c0035	a0036c0035t0001 a0036c0035t0001	a0036c0035t0001g0047 a0036c0035t0001g0047	1	406	0.0025	244	c.-18 others(255): Show c.-1844_-1843insAGGAGGACAGAGACCCAGAGAGAGGGGGACAGAG ACCCAGAGAGACGGGGACAGAGACCCAGAGAGAGGGGGACAGAGACCCAG AGAGAGGGGAACAGAGACCCAGAGAGAGAGGAGGACAGAGACCCAGAGAG AGGGGGACAGAGACCCAGAGAGGGGGGGACAGAGACCCAGGGATGGGGGG ACAGAGACCCAGGGAGAGGGGACAGAGACCCACGGAGAGGGGTACAGAGA CCCAGGGAGA	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1685		chr19	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(237): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	320	0.0031	244	c.40+ others(261): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HTR2C_chrX_114579086_114915061	114761978	C C	CACGTATA others(237): Show CACGTATATATACACATATGTGTATATATACGTGTATATATACACATATG TGTATATATACGTGTATATATACACATATGTGTATATATACGTGTATATA TACATATATGTGTATATATACGTGTATATATACATATATGTGTATATATA CGTGTATATATACATATATGTGTATATATACGTGTATATATACATATATG TGTATATATACGTGTATATATACATATATGTGTATATATACATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	176	0.0057	244	c.349 others(263): Show c.349+30371_349+30372insACGTATATATACACATATGTGTATAT ATACGTGTATATATACACATATGTGTATATATACGTGTATATATACACAT ATGTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTAT ATATACATATATGTGTATATATACGTGTATATATACATATATGTGTATAT ATACGTGTATATATACATATATGTGTATATATACGTGTATATATACATAT ATGTGTATATATACATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(237): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATGTATAATAACATTATATATTATATATTATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01099.hp1 others(7): Show HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01257.hp1 HG01361.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079	10	366	0.0273	244	c.-36 others(255): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATATATAATGTATAATAACATTATATATTATAT ATTATACATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(237): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATGTATAATAACATTATATATTATATATTATACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01099.hp1 others(6): Show HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01257.hp2 HG01361.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0145	9	348	0.0259	244	c.84 others(253): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATATATAATGTATAATAACATTATATATTATATAT TATACATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1337567	G G	GCAGCCAT others(237): Show GCAGCCATGAAAAGGAACAAGCAGCTTTATTCACAATAGCCAAGAGATGG AGACAGCCCTCATACCCATCTATAGACGAATGGATAAATATAATGTGGTC CAGCCACACGGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTT ATTCACAATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGACG AATGGATAAATATAATGTGGTCCAGCCACACAGTGGAATATTACA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	115	0.0087	244	c.-39 others(259): Show c.-39+686_-39+687insATGGAGACAGCCCTCATACCCATCTATAGA CGAATGGATAAATATAATGTGGTCCAGCCACACGGTGGAATATTACACAG CCATGAAAAGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGAC AGCCCTCATACCCATCTATAGACGAATGGATAAATATAATGTGGTCCAGC CACACAGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTC ACAATAGCCAAGAG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1337676	G G	GGTGGAAT others(237): Show GGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTCACAAT AGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGACGAATGGATAA ATATAATGTGGTCCAGCCACACAGTGGAATATTACACAGCCATGAAAAGG AACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCATAC CCATCTATAGACGAATGGATAAATATAATGTGGTCCAGCCACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG02280.hp2 HG03098.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0004 a0001c0001 a0016c0004	a0001c0001t0007 a0016c0004t0007 a0001c0001t0007 a0016c0004t0007	a0001c0001t0007g0097 a0016c0004t0007g0093 a0001c0001t0007g0097 a0016c0004t0007g0093	2	115	0.0174	244	c.-39 others(259): Show c.-39+960_-39+961insCGAATGGATAAATATAATGTGGTCCAGCCA CACAGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTCAC AATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGACGAATGGA TAAATATAATGTGGTCCAGCCACACAGTGGAATATTACACAGCCATGAAA AGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCA TACCCATCTATAGA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1337846	A A	ATAGCCAA others(237): Show ATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGACGAATGGAT AAATATAATGTGGTCCAGCCACACAGTGGAATATTACACAGCCATGAAAA GGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCAT ACCCATCTATAGACGAATGGATAAATATAATGTGGTCCAGCCACACAGTG GAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTCACAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0009 a0001c0020t0009	a0001c0020t0009g0098 a0001c0020t0009g0098	1	115	0.0087	244	c.-39 others(259): Show c.-39+960_-39+961insCGAATGGATAAATATAATGTGGTCCAGCCA CACAGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTCAC AATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGACGAATGGA TAAATATAATGTGGTCCAGCCACACAGTGGAATATTACACAGCCATGAAA AGGAACAAGCAGCTTTATTCACAGTAGCCAAGAGGTGGAGACAGCCCTCA TACCCATCTATAGA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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