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 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ERG_chr21_38375036_38503477	38429544	TATGTGTA others(47): Show TATGTGTATATGTACATGTATACACATGTACATATATACATATGTGTATA TGTAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	360	0.0028	-54	c.237 others(71): Show c.237-6037_237-5984delGTACATATACACATATGTATATATGTAC ATGTGTATACATGTACATATACACAT		ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9						chr21	TogoVar
ERICH1_chr8_659200_736224	675150	GCCCCTCG others(47): Show GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03491.hp2 NA20752.hp1 HG02145.hp2 HG03491.hp2 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0002 a0001c0001t0001 a0007c0011t0002	a0001c0001t0001g0211 a0001c0001t0001g0212 a0007c0011t0002g0245 a0001c0001t0001g0211 a0001c0001t0001g0212 a0007c0011t0002g0245	3	378	0.0079	-54	c.305 others(71): Show c.305-1157_305-1104delGCGCCGCGTCTCTGTCCTCACGAGGGGC CGCCGCGTCTCTGTCCTCACGAGGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675321	GTGAGGAC others(47): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01256.hp1 others(1): Show HG00099.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0005 a0001c0002t0001g0102 a0001c0002t0001g0113	4	378	0.0106	-54	c.305 others(71): Show c.305-1328_305-1275delGAGGGGCCGCCGCGTCTCTGTCCTCGCC GAGGGGGCGCCGCGTCTCTGTCCTCA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675910	ACGCGGCG others(47): Show ACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp2 HG03942.hp1 HG03471.hp2 HG03486.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0276 a0001c0001t0002g0315 a0001c0001t0002g0248 a0001c0001t0002g0276 a0001c0001t0002g0315	3	378	0.0079	-54	c.305 others(71): Show c.305-1917_305-1864delCCTCTGTCCTCACGAGGGGCCGCCGCGC CTCTGTCCTCACGAGGGGCCGCCGCG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675950	TCGTGAGG others(47): Show TCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01891.hp2 HG03098.hp2 others(2): Show HG01258.hp2 HG01891.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0242 a0001c0001t0002g0012	5	378	0.0132	-54	c.305 others(71): Show c.305-1957_305-1904delGGGGGGCGCCGCGTCTCTGTCCTCACGA GGGGCCGCCGCGCCTCTGTCCTCACG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676357	GCCCCTCG others(47): Show GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02683.hp1 others(5): Show HG01168.hp1 HG02055.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0001c0001t0001 a0001c0001t0002 a0001c0014t0001	a0001c0001t0001g0216 a0001c0001t0002g0257 a0001c0001t0002g0259 others(5): Show a0001c0001t0001g0216 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0014t0001g0077	8	378	0.0212	-54	c.305 others(71): Show c.305-2364_305-2311delGCGCCGCGTCTCTGTCCTCACGAGGGGC CGCCGCGTCTCTGTCCTCACGAGGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699784	CGCGCACA others(47): Show CGCGCACAGACCCGCACACGCGCACAGATCCGCACAAGCGCACAGACCCG CACAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp1 others(40): Show HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02280.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18956.hp2 NA18964.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA19078.hp2 NA20752.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0014 a0002c0005 others(1): Show a0001c0001 a0001c0014 a0002c0005 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0005t0001 a0008c0016t0002	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0193 others(39): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0002g0011 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0014t0001g0077 a0002c0005t0001g0237 a0008c0016t0002g0326	43	378	0.1138	-54	c.170 others(71): Show c.170-7226_170-7173delCTGTGCGGGTCTGTGCGCTTGTGCGGAT CTGTGCGCGTGTGCGGGTCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(47): Show CTATATATATATATATATATATATATATGTATATATATATATATATATAT ATATG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 NA19030.hp1 HG00738.hp2 HG00741.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0239 a0001c0001t0002g0358 a0003c0003t0001g0075 a0001c0001t0002g0239 a0001c0001t0002g0358 a0003c0003t0001g0075	3	442	0.0068	-54	c.58+ others(69): Show c.58+8733_58+8786delGTATATATATATATATATATATATATGTAT ATATATATATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073462	ATATATAT others(47): Show ATATATATATATATATATATATATGTATATATATATATATATATATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	442	0.0023	-54	c.58+ others(69): Show c.58+8759_58+8812delGTATATATATATATATATATATATATATAT GTATATATATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245472	ATATATAT others(47): Show ATATATATACGTATATATATACACGTATATATATATGTGTGTATGTATGT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0212 a0002c0002t0066g0212	1	396	0.0025	-54	c.432 others(71): Show c.432-2031_432-1978delCACACACATACATACACACATATATATA TACGTGTATATATATACGTATATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERP44_chr9_99974185_100104000	100100638	TTATATAT others(47): Show TTATATATGTATATATAATATATATATTATATATGTACATATAATATATA TATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01975.hp2 HG01070.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0126 a0001c0001t0001g0148	2	220	0.0091	-54	c.-18 others(65): Show c.-1852_-1799delTAATATATATATTATATGTACATATATAATATAT ATATTATATATACATATATA		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding					1639		chr9	TogoVar
ESPNL_chr2_238095340_238138287	238105085	CTCCTAGT others(47): Show CTCCTAGTCCCTCTCTCCCTGGAAGTCCTGGTAGGCCTCCCAGGTGCTCT CACAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0116 a0003c0116	a0003c0116t0001 a0003c0116t0001	a0003c0116t0001g0280 a0003c0116t0001g0280	1	408	0.0025	-54	c.672 others(69): Show c.672+245_672+298delCCTAGTCCCTCTCTCCCTGGAAGTCCTGGT AGGCCTCCCAGGTGCTCTCACAGT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118540	ATGGATGG others(47): Show ATGGATGGAAGAGGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAG AAGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(47): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG01081.hp1 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0024 a0025 a0042 a0043 a0045	a0001c0012 a0001c0016 a0002c0058 others(20): Show a0001c0012 a0001c0016 a0002c0058 a0002c0066 a0002c0081 a0002c0098 a0002c0118 a0003c0009 a0003c0024 a0003c0044 a0003c0082 a0003c0097 a0003c0119 a0004c0083 a0005c0027 a0006c0045 a0015c0120 a0015c0131 a0024c0094 a0025c0075 a0042c0084 a0043c0080 a0045c0095	a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 others(23): Show a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0002c0058t0005 a0002c0066t0007 a0002c0081t0005 a0002c0098t0002 a0002c0118t0007 a0003c0009t0006 a0003c0009t0021 a0003c0024t0001 a0003c0044t0006 a0003c0082t0006 a0003c0097t0017 a0003c0119t0012 a0004c0083t0005 a0005c0027t0001 a0005c0027t0022 a0006c0045t0003 a0015c0120t0003 a0015c0131t0003 a0024c0094t0003 a0025c0075t0011 a0042c0084t0007 a0043c0080t0006 a0045c0095t0006	a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(42): Show a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0007 a0001c0016t0004g0022 a0001c0016t0004g0080 a0001c0016t0004g0081 a0002c0058t0005g0321 a0002c0066t0007g0163 a0002c0081t0005g0023 a0002c0098t0002g0254 a0002c0118t0007g0153 a0003c0009t0006g0006 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0009t0006g0059 a0003c0009t0006g0060 a0003c0009t0006g0062 a0003c0009t0021g0077 a0003c0024t0001g0230 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0097t0017g0270 a0003c0119t0012g0160 a0004c0083t0005g0019 a0005c0027t0001g0006 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0006c0045t0003g0204 a0006c0045t0003g0205 a0015c0120t0003g0165 a0015c0131t0003g0164 a0024c0094t0003g0166 a0025c0075t0011g0200 a0042c0084t0007g0044 a0043c0080t0006g0019 a0045c0095t0006g0196	50	408	0.1226	-54	c.987 others(71): Show c.987+1520_987+1573delTGGATGGAGGAGAGTGAATGGAGGAGGT GGATGGAGAAGGGTGGATGGAAGAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747140	ATATATAT others(47): Show ATATATATAATATATATATATATATTATATATATATATATAATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG03098.hp2 others(2): Show HG00642.hp1 HG02109.hp2 HG03098.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0129 a0001c0001t0001g0182 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0003t0001g0012	5	378	0.0132	-54	c.108 others(71): Show c.1083-343_1083-290delATATATATATATATTATATATATATATA TAATATATATATATATATTATATATA		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12						chr4	TogoVar
ETS1_chr11_128453765_128592558	128584978	GAAAGAAA others(47): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAG AAAGA	G G	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	286	0.0035	-54	c.-15 others(71): Show c.-15+2456_-15+2509delTCTTTCTTTCTTCTTTCTTTCCTTTCTT TCCTTCCTTCCTTCCTTTCTTTCTTT		ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9						chr11	TogoVar
EXOC3_chr5_438176_472290	443202	AGGCAGCG others(47): Show AGGCAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCGGCGGCGGCGGCGGCG GCGGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01081.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0005 a0001c0002t0021g0098 a0001c0002t0021g0005 a0001c0002t0021g0098	2	418	0.0048	-54	c.-14 others(62): Show c.-141_-88delAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCGGCGGCG GCGGCGGCGGCGGCGGC		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13				2947	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC4_chr7_133248078_134070761	133857247	ATATATAT others(47): Show ATATATATATATATATATATATATATACACGTATATATATATATATATAT ACACG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp2 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0004 a0001c0004t0004g0082 a0001c0001t0003g0004 a0001c0004t0004g0082	2	102	0.0196	-54	c.173 others(75): Show c.1735-38331_1735-38278delTATATACACGTATATATATATATA TATATACACGTATATATATATATATATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857301	GTATATAT others(47): Show GTATATATATATATATATATACACGTATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 NA19010.hp2 others(1): Show HG00140.hp1 HG00323.hp2 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0041 a0001c0004t0001g0072 others(1): Show a0001c0004t0001g0009 a0001c0004t0001g0041 a0001c0004t0001g0072 a0001c0004t0001g0087	4	102	0.0392	-54	c.173 others(75): Show c.1735-38286_1735-38233delATATATATACACGTATATATATAT ATATATATATATATATATATATATATATAT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EYA2_chr20_46889843_47193844	47156111	CACACACA others(47): Show CACACACACACACACACATATATATATATATATATATATATATATATATA TATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG03098.hp2 others(4): Show HG01243.hp1 HG02572.hp2 HG03098.hp2 HG03209.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 a0001c0001t0001 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0003t0001g0103 a0003c0007t0001g0007	7	238	0.0294	-54	c.978 others(73): Show c.978+12965_979-12973delCACACACACACACACATATATATATA TATATATATATATATATATATATATATA		EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156113	CACACACA others(47): Show CACACACACACACACATATATATATATATATATATATATATATATATATA TATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02647.hp2 others(7): Show HG01891.hp1 HG02257.hp1 HG02647.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0002t0001g0004 a0001c0003t0001g0093 a0001c0003t0001g0238 a0001c0012t0001g0024	10	238	0.0420	-54	c.978 others(73): Show c.978+12967_979-12971delCACACACACACACATATATATATATA TATATATATATATATATATATATATATA		EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
EZH2_chr7_148802383_148889291	148866502	GTATATAC others(47): Show GTATATACATATATATGTGTATATACATATATATACGTATATACATATAT ATACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(77): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19057.hp2 NA19075.hp1 NA19085.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0007 a0002c0004t0001	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 others(77): Show a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0006g0311 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0310 a0002c0002t0001g0315 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0333 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0372 a0002c0002t0007g0378 a0002c0004t0001g0346	80	380	0.2105	-54	c.-8+ others(71): Show c.-8+17608_-8+17661delTGTATATATATGTATATACGTATATATA TGTATATACACATATATATGTATATA		EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19						chr7	TogoVar
EZR_chr6_158760748_158824368	158803528	TATATATA others(47): Show TATATATATATATATATGTATATATATATATATATATATATATATATATA TATAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01934.hp2 HG02486.hp2 others(16): Show HG00597.hp2 HG01934.hp2 HG02486.hp2 HG02572.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03654.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18981.hp1 NA18988.hp2 NA18995.hp2 NA19054.hp2 NA19067.hp2 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0024 a0004c0009t0001 a0001c0001t0001 a0001c0001t0024 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0058 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0024g0022 a0004c0009t0001g0170	19	312	0.0609	-54	c.13- others(71): Show c.13-14211_13-14158delGTATATATATATATATATATATATATAT ATATATATACATATATATATATATAT		EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13						chr6	TogoVar
FADS6_chr17_74872302_74898633	74893524	GGGCTCCG others(47): Show GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTT CCATC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(47): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG06807.hp1 NA18747.hp1 NA18946.hp2 NA18970.hp1 NA18991.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19085.hp1 NA19240.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0011	a0003c0003 a0003c0012 a0005c0005 others(3): Show a0003c0003 a0003c0012 a0005c0005 a0005c0016 a0010c0017 a0011c0015	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0012t0010 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0017 a0005c0016t0004 a0010c0017t0007 a0011c0015t0001	a0003c0003t0001g0001 a0003c0003t0001g0045 a0003c0003t0001g0047 others(35): Show a0003c0003t0001g0001 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0002g0009 a0003c0003t0002g0066 a0003c0003t0003g0044 a0003c0012t0010g0046 a0003c0012t0010g0060 a0005c0005t0001g0037 a0005c0005t0001g0055 a0005c0005t0001g0061 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0002g0008 a0005c0005t0002g0039 a0005c0005t0002g0041 a0005c0005t0002g0043 a0005c0005t0003g0062 a0005c0005t0003g0070 a0005c0005t0006g0040 a0005c0005t0017g0042 a0005c0016t0004g0038 a0010c0017t0007g0071 a0011c0015t0001g0050	50	440	0.1136	-54	c.18_ others(59): Show c.18_71delGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATG GAACCTACGGAGCC	p.Met others(10): Show p.Met7_Pro24del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	109/2174	18/1107	6/368			chr17	TogoVar
FAM149A_chr4_186099704_186180337	186136936	ATCTCTCT others(47): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTTTCTCTCTCT CTCTC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0150 a0002c0004t0001g0150	1	390	0.0026	-54	c.567 others(73): Show c.567-12209_567-12156delTTCTCTCTCTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCT		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM174B_chr15_92612448_92660775	92631316	AATATTAT others(47): Show AATATTATATATAATATATTATATATTATATATAATATATTATATATTAT ATTAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19007.hp2 NA19010.hp2 NA18973.hp1 NA19007.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0146 a0001c0001t0003g0139 a0001c0001t0007g0145 a0001c0001t0002g0146 a0001c0001t0003g0139 a0001c0001t0007g0145	3	394	0.0076	-54	c.345 others(70): Show c.345-1025_345-972delATAATATAATATATAATATATTATATATA ATATATAATATATTATATATAATAT		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM20A_chr17_68530116_68606367	68571939	AATATATA others(47): Show AATATATATATGTGTGTGTGTGTATATATATGTGTGTGTATATACATACA TATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04199.hp2 NA18998.hp1 others(1): Show HG04184.hp1 HG04199.hp2 NA18998.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0001 a0001c0004t0002 a0002c0008t0001 a0001c0004t0001 a0001c0004t0002 a0002c0008t0001	a0001c0004t0001g0038 a0001c0004t0001g0042 a0001c0004t0002g0014 others(1): Show a0001c0004t0001g0038 a0001c0004t0001g0042 a0001c0004t0002g0014 a0002c0008t0001g0032	4	380	0.0105	-54	c.405 others(73): Show c.405-16250_405-16197delATATATGTATGTATATACACACACAT ATATATACACACACACACATATATATAT		FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10						chr17	TogoVar
FAM78A_chr9_131253078_131281510	131274814	CTCTGGGA others(47): Show CTCTGGGAGTGTCAGCGGCCAGTCACGGGGCCACAGGGTAGACACTGAGA GAGGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0139 a0001c0001t0002g0140	2	418	0.0048	-54	c.323 others(70): Show c.323+989_323+1042delACCTCTCTCAGTGTCTACCCTGTGGCCCC GTGACTGGCCGCTGACACTCCCAGA		FAM78A	ENSG00000126882.14	transcript	ENST00000372271.4	protein_coding	1/1						chr9	TogoVar
FAM78B_chr1_166064299_166172001	166109828	ATATGTAT others(47): Show ATATGTATATATGTATATATATATATATATATATGTATGTGTATATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG02886.hp2 others(1): Show HG02559.hp2 HG02818.hp2 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045	4	318	0.0126	-54	c.264 others(73): Show c.264-39119_264-39066delCATATATATATATACACATACATATA TATATATATATATATACATATATACATA		FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1						chr1	TogoVar
FAM98A_chr2_33578660_33604299	33594652	CACACATA others(47): Show CACACATATATATACACATATATATATACACACATATATATACACATATA TATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02055.hp1 HG02717.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0084 a0003c0010t0001g0085 a0001c0001t0001g0084 a0003c0010t0001g0085	2	406	0.0049	-54	c.202 others(69): Show c.202+783_202+836delATATATATATGTGTATATATATGTGTGTAT ATATATATGTGTATATATATGTGT		FAM98A	ENSG00000119812.20	transcript	ENST00000238823.13	protein_coding	2/7						chr2	TogoVar
FAM9B_chrX_9019232_9039127	9021249	ATATATTA others(47): Show ATATATTATATATATAATATATAATATATTATATTATATATATAATATAT AATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	258	0.0039	-54	c.41 others(65): Show c.4106_*4159delATATTATATATTATATATATAATATAATATATTA TATATTATATATATAATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2982		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9021256	ATATATAT others(47): Show ATATATATAATATATAATATATTATATTATATATATAATATATAATATAT TATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(85): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01891.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02976.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18962.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0002c0002t0001 a0003c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0003g0015 a0001c0001t0003g0055 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0008g0021 a0001c0001t0014g0060 a0002c0002t0001g0013 a0003c0003t0004g0056	88	258	0.3411	-54	c.40 others(65): Show c.4099_*4152delATATAATATATTATATATTATATATATAATATAA TATATTATATATTATATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2975		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022101	ACATTATG others(47): Show ACATTATGTATAATATATAATATATATTACATTATGTATAATATATAATA TATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	258	0.0039	-54	c.32 others(65): Show c.3254_*3307delATATATATTATATATTATACATAATGTAATATAT ATTATATATTATACATAATG		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2130		chrX	TogoVar
FAR2_chr12_29144278_29340616	29253226	TATCTAGA others(47): Show TATCTAGATAGATATCTATATATCGATATCTATCTAGATAGATATCTATA TATCG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02976.hp1 others(8): Show HG00438.hp2 HG00621.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03579.hp2 HG03669.hp2 NA18967.hp2 NA18989.hp2 NA19063.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0117 others(8): Show a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0117 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0002g0257 a0001c0001t0002g0276 a0001c0001t0002g0286 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0009g0213	11	326	0.0337	-54	c.-38 others(73): Show c.-38-17183_-38-17130delCTAGATAGATATCTATATATCGATAT CTATCTAGATAGATATCTATATATCGAT		FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBLN7_chr2_112133385_112193218	112139531	TCAGCGTC others(47): Show TCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CACGC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	346	0.0029	-54	c.75+ others(67): Show c.75+805_75+858delCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCC CTCCCGCCTCTCTCCACGCCAG		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139697	CGTCCCTC others(47): Show CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG TCAGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03041.hp1 HG03130.hp2 others(3): Show HG01255.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 NA18939.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0089 a0001c0001t0001g0178 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0002g0088 a0001c0001t0005g0191	6	346	0.0173	-54	c.75+ others(69): Show c.75+1017_75+1070delTCAGTGTCCCTCCCGCCTCTCTCCACGCCA GTGTCCCTCCCGCCTCTCTCCAGG		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139962	TGTCCCTC others(47): Show TGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGG TCAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	346	0.0029	-54	c.75+ others(69): Show c.75+1280_75+1333delGGTCAGCGTCCCTCCCGCCTCTCTCCAGGC CAGCGTCCCTCCCGCCTCTCTCCA		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48529838	TTTATCCA others(47): Show TTTATCCATGCTGCATCCGCCGCCCGATCACAACTTGAAAATGGAGTCTG AATTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp2 HG02280.hp2 others(20): Show HG01167.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp1 NA18956.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0022 a0001c0024	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0013 a0001c0005t0014 a0001c0022t0013 a0001c0024t0010	a0001c0001t0001g0117 a0001c0001t0010g0225 a0001c0001t0020g0070 others(20): Show a0001c0001t0001g0117 a0001c0001t0010g0225 a0001c0001t0020g0070 a0001c0002t0001g0020 a0001c0002t0001g0124 a0001c0002t0001g0283 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0005t0001g0198 a0001c0005t0001g0201 a0001c0005t0002g0202 a0001c0005t0003g0204 a0001c0005t0003g0208 a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0013g0199 a0001c0005t0014g0196 a0001c0022t0013g0010 a0001c0024t0010g0195	23	288	0.0799	-54	c.863 others(71): Show c.863-3637_863-3584delGAATTCAGACTCCATTTTCAAGTTGTGA TCGGGCGGCGGATGCAGCATGGATAA		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	8/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48530184	CATCACAA others(47): Show CATCACAACTTGAAAATGGAGTCTGAATTCTTATCCATGCTGCATCCGCC GCCTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	288	0.0035	-54	c.862 others(71): Show c.862+3842_862+3895delCAGGCGGCGGATGCAGCATGGATAAGAA TTCAGACTCCATTTTCAAGTTGTGAT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	8/65						chr15	TogoVar
FBRSL1_chr12_132485151_132590188	132562984	ACCTGGCC others(47): Show ACCTGGCCCCCACAGCCTGCACCCCACACCTGGCCCCCACAGCCTGCACC CCACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02027.hp1 HG02040.hp2 others(17): Show HG00280.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02165.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18986.hp2 NA19000.hp2 NA19002.hp2 NA19064.hp1 NA19068.hp1 NA19087.hp2 NA19240.hp2	a0000 a0002 a0004 others(4): Show a0000 a0002 a0004 a0007 a0009 a0019 a0020	a0000c0039 a0000c0063 a0000c0084 others(7): Show a0000c0039 a0000c0063 a0000c0084 a0000c0085 a0002c0081 a0004c0013 a0007c0010 a0009c0017 a0019c0082 a0020c0083	a0000c0039t0005 a0000c0063t0051 a0000c0084t0036 others(10): Show a0000c0039t0005 a0000c0063t0051 a0000c0084t0036 a0000c0085t0005 a0002c0081t0002 a0004c0013t0005 a0007c0010t0005 a0007c0010t0015 a0007c0010t0041 a0009c0017t0005 a0009c0017t0009 a0019c0082t0005 a0020c0083t0005	a0000c0039t0005g0324 a0000c0063t0051g0086 a0000c0084t0036g0320 others(17): Show a0000c0039t0005g0324 a0000c0063t0051g0086 a0000c0084t0036g0320 a0000c0085t0005g0321 a0002c0081t0002g0344 a0004c0013t0005g0317 a0004c0013t0005g0322 a0004c0013t0005g0327 a0007c0010t0005g0237 a0007c0010t0005g0319 a0007c0010t0005g0323 a0007c0010t0005g0328 a0007c0010t0015g0332 a0007c0010t0041g0330 a0009c0017t0005g0333 a0009c0017t0005g0335 a0009c0017t0005g0336 a0009c0017t0009g0334 a0019c0082t0005g0318 a0020c0083t0005g0326	20	348	0.0575	-54	c.646 others(71): Show c.646-4470_646-4417delACCTGGCCCCCACAGCCTGCACCCCACG CCTGGCCCCCACAGCCTGCACCCCAC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	ACCTGGCC others(47): Show ACCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACC CCACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02970.hp1 others(1): Show HG01891.hp1 HG02145.hp2 HG02970.hp1 HG03453.hp2	a0000 a0001 a0024 a0000 a0001 a0024	a0000c0080 a0001c0003 a0024c0061 a0000c0080 a0001c0003 a0024c0061	a0000c0080t0045 a0001c0003t0004 a0001c0003t0026 others(1): Show a0000c0080t0045 a0001c0003t0004 a0001c0003t0026 a0024c0061t0009	a0000c0080t0045g0073 a0001c0003t0004g0018 a0001c0003t0026g0062 others(1): Show a0000c0080t0045g0073 a0001c0003t0004g0018 a0001c0003t0026g0062 a0024c0061t0009g0067	4	348	0.0115	-54	c.646 others(71): Show c.646-4260_646-4207delCCCCACGCCTGGCCCCCACAGCCTGCAC CCCACGCCTGGCCCCCACAGCCTGCA		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL7_chr5_15495180_15944793	15714477	CTACACAA others(47): Show CTACACAAGGTAATGTGGAGTGTACAATGTGGAATACACAATGTACAATA TGGAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	122	0.0082	-54	c.127 others(73): Show c.127+98419_127+98472delGTGGAGTGTACAATGTGGAATACACA ATGTACAATATGGAATACACAAGGTAAT		FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
FBXO34_chr14_55266421_55358611	55318333	CATATATA others(47): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02615.hp1 others(4): Show HG02055.hp1 HG02109.hp1 HG02615.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0011 a0004c0004 a0004c0011	a0004c0004t0006 a0004c0011t0006 a0004c0004t0006 a0004c0011t0006	a0004c0004t0006g0324 a0004c0004t0006g0325 a0004c0004t0006g0326 others(4): Show a0004c0004t0006g0324 a0004c0004t0006g0325 a0004c0004t0006g0326 a0004c0004t0006g0327 a0004c0004t0006g0328 a0004c0004t0006g0330 a0004c0011t0006g0323	7	334	0.0210	-54	c.-10 others(73): Show c.-10-32023_-10-31970delATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FDX1_chr11_110424948_110469884	110444651	TATATATA others(47): Show TATATATATATATACGTATATATATATATATATACACGTATATATATATA TATAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	400	0.0025	-54	c.310 others(71): Show c.310+8694_310+8747delATATATATATATACGTATATATATATAT ATATACACGTATATATATATATATAC		FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3						chr11	TogoVar
FDX1_chr11_110424948_110469884	110444652	ATATATAT others(47): Show ATATATATATATACGTATATATATATATATATACACGTATATATATATAT ATACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG03098.hp1 others(3): Show HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(3): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074	6	400	0.0150	-54	c.310 others(71): Show c.310+8707_310+8760delCGTATATATATATATATATACACGTATA TATATATATATACGTATATATATATA		FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
FEM1B_chr15_68272745_68300862	68274625	TGGCAAAA others(47): Show TGGCAAAATAGAAGGATTTTGCCAGGTGGGCAAAATAGAAGAGTTTTGTA ACGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0074 a0001c0002t0028g0074	1	312	0.0032	-54	c.-37 others(65): Show c.-3792_-3739delGGCAAAATAGAAGGATTTTGCCAGGTGGGCAAAA TAGAAGAGTTTTGTAACGTG		FEM1B	ENSG00000169018.6	transcript	ENST00000306917.5	protein_coding					3119		chr15	TogoVar
FEM1B_chr15_68272745_68300862	68274646	CCAGGTGG others(47): Show CCAGGTGGGCAAAATAGAAGAGTTTTGTAACGTGGGCAAAATAGAAGGAT TTTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	312	0.0032	-54	c.-37 others(65): Show c.-3771_-3718delCAGGTGGGCAAAATAGAAGAGTTTTGTAACGTGG GCAAAATAGAAGGATTTTGT		FEM1B	ENSG00000169018.6	transcript	ENST00000306917.5	protein_coding					3098		chr15	TogoVar
FGF14_chr13_101705804_101921945	101850485	TATATATA others(47): Show TATATATATATATATATATATATATATATAGAATTATATATTCTATATAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG01993.hp1 others(8): Show HG01433.hp1 HG01884.hp1 HG01993.hp1 HG02280.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(6): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0001t0096 a0001c0001t0097 a0001c0001t0146 a0001c0001t0148 a0001c0001t0153	a0001c0001t0001g0016 a0001c0001t0019g0227 a0001c0001t0023g0157 others(8): Show a0001c0001t0001g0016 a0001c0001t0019g0227 a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0001t0023g0164 a0001c0001t0032g0060 a0001c0001t0096g0129 a0001c0001t0097g0020 a0001c0001t0146g0156 a0001c0001t0148g0167 a0001c0001t0153g0154	11	266	0.0414	-54	c.408 others(73): Show c.408+18186_408+18239delTATATATATATAGAATATATAATTCT ATATATATATATATATATATATATATAT		FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4						chr13	TogoVar
FGFR4_chr5_177081915_177103144	177096928	CCTCTTCC others(47): Show CCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCC TCCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02486.hp1 others(4): Show HG01891.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG02895.hp1 HG03195.hp2 NA19030.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0008 a0004c0003t0001g0211 a0004c0003t0001g0008 a0004c0003t0001g0211	7	372	0.0188	-54	c.215 others(71): Show c.2153+214_2153+267delTCTCCTCCTGCTCCTCTTCCTCCTCCTT CTCTTCCTCCTCCTCCTCTTCCTCCT		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
FHOD3_chr18_36292713_36785220	36763365	CAATATGC others(47): Show CAATATGCGTATTATACACGTTATATACAATATGCGTATTATACACGTTA TATAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0156 a0003c0007t0001g0156	1	168	0.0060	-54	c.462 others(73): Show c.4624+2610_4624+2663delCAATATGCGTATTATACACGTTATAT ATAATATGCGTATTATACACGTTATATA		FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
FHOD3_chr18_36292713_36785220	36763478	TTGTATTA others(47): Show TTGTATTATACACGTTATATATAATATGTGTATTATACACGTTATATATA ATATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02897.hp2 others(6): Show HG01884.hp2 HG02630.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 NA18522.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0020	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0015c0042 a0020c0027	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0015c0042t0002 a0020c0027t0001	a0001c0001t0001g0059 a0002c0002t0001g0135 a0003c0005t0001g0054 others(6): Show a0001c0001t0001g0059 a0002c0002t0001g0135 a0003c0005t0001g0054 a0003c0005t0001g0067 a0003c0005t0001g0136 a0003c0005t0001g0150 a0003c0005t0001g0165 a0015c0042t0002g0106 a0020c0027t0001g0096	9	168	0.0536	-54	c.462 others(73): Show c.4624+2804_4624+2857delGTGTATTATACACGTTATATATAATA TGTGTATTATACACGTTATATATAATAT		FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr18	TogoVar

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